ClinVar for Gene (Select 55033) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 2964125	NM_017946.4(FKBP14):c.432C>T (p.Phe144=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2913399	NM_017946.4(FKBP14):c.429A>G (p.Ser143=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2899355	NM_017946.4(FKBP14):c.306G>A (p.Lys102=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2898286	NM_017946.4(FKBP14):c.93T>G (p.Val31=)	FKBP14, FKBP14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2882996	NM_017946.4(FKBP14):c.576T>C (p.Asp192=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2851770	NM_017946.4(FKBP14):c.75A>G (p.Pro25=)	FKBP14, FKBP14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2850334	NM_017946.4(FKBP14):c.87T>G (p.Ile29Met)	FKBP14, FKBP14-AS1 (I29M)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2820175	NM_017946.4(FKBP14):c.477+20A>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2789472	NM_017946.4(FKBP14):c.99G>T (p.Gln33His)	FKBP14, FKBP14-AS1 (Q33H)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2766246	NM_017946.4(FKBP14):c.204A>G (p.Lys68=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2763908	NM_017946.4(FKBP14):c.198-8T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2739931	NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter)	FKBP14, FKBP14-AS1 (W88*)	Single nucleotide variant (nonsense +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GPathogenic
Select item 2722941	NM_017946.4(FKBP14):c.350-17T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2682967	NM_017946.4(FKBP14):c.224T>G (p.Ile75Ser)	FKBP14, FKBP14-AS1 (I75S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2625795	NM_017946.4(FKBP14):c.133G>T (p.Gly45Trp)	FKBP14, FKBP14-AS1 (G45W)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2625794	NM_017946.4(FKBP14):c.223A>G (p.Ile75Val)	FKBP14, FKBP14-AS1 (I75V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2532095	NM_017946.4(FKBP14):c.554A>G (p.Glu185Gly)	FKBP14, FKBP14-AS1 (E185G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2501231	NM_017946.4(FKBP14):c.52_55del (p.Ile18fs)	FKBP14, FKBP14-AS1 (I18fs)	Deletion (frameshift variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely pathogenic
Select item 2428030	NM_017946.4(FKBP14):c.615A>G (p.Thr205=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2420763	NM_017946.4(FKBP14):c.40G>C (p.Val14Leu)	FKBP14, FKBP14-AS1 (V14L)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2413528	NM_017946.4(FKBP14):c.21C>A (p.Asn7Lys)	FKBP14, FKBP14-AS1 (N7K)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2172995	NM_017946.4(FKBP14):c.478-20T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2163631	NM_017946.4(FKBP14):c.535CAT[1] (p.His180del)	FKBP14, FKBP14-AS1 (H180del)	Microsatellite (inframe_deletion +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2161230	NM_017946.4(FKBP14):c.295G>C (p.Glu99Gln)	FKBP14, FKBP14-AS1 (E99Q)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2158264	NM_017946.4(FKBP14):c.350-13T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2155452	NM_017946.4(FKBP14):c.24G>T (p.Ala8=)	FKBP14, FKBP14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2149500	NM_017946.4(FKBP14):c.349+18T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2148907	NM_017946.4(FKBP14):c.393C>A (p.Leu131=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GLikely benign
Select item 2143826	NM_017946.4(FKBP14):c.307C>T (p.Leu103Phe)	FKBP14, FKBP14-AS1 (L103F)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2141632	NM_017946.4(FKBP14):c.53T>C (p.Ile18Thr)	FKBP14-AS1, FKBP14 (I18T)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2132742	NM_017946.4(FKBP14):c.478-18G>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2125023	NM_017946.4(FKBP14):c.591G>T (p.Gly197=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2100865	NM_017946.4(FKBP14):c.350-18C>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2066341	NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg)	FKBP14, FKBP14-AS1 (G197R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GUncertain significance
Select item 2061990	NM_017946.4(FKBP14):c.36G>C (p.Leu12=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2049240	NM_017946.4(FKBP14):c.52A>G (p.Ile18Val)	FKBP14, FKBP14-AS1 (I18V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2041710	NM_017946.4(FKBP14):c.197+6dup	FKBP14, FKBP14-AS1	Duplication (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2039983	NM_017946.4(FKBP14):c.54T>C (p.Ile18=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2034227	NM_017946.4(FKBP14):c.555G>A (p.Glu185=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2001277	NM_017946.4(FKBP14):c.194C>T (p.Ser65Phe)	FKBP14, FKBP14-AS1 (S65F)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1995005	NM_017946.4(FKBP14):c.477+20A>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1994404	NM_017946.4(FKBP14):c.350-7A>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1970914	NM_017946.4(FKBP14):c.351T>C (p.Gly117=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1934498	NM_017946.4(FKBP14):c.203A>G (p.Lys68Arg)	FKBP14, FKBP14-AS1 (K68R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1904530	NM_017946.4(FKBP14):c.632T>C (p.Leu211Ser)	FKBP14, FKBP14-AS1 (L211S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1899267	NM_017946.4(FKBP14):c.99G>A (p.Gln33=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1898707	NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)	FKBP14, FKBP14-AS1 (S143*)	Single nucleotide variant (nonsense +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GPathogenic/Likely pathogenic
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1800565	NM_017946.4(FKBP14):c.34dup (p.Leu12fs)	FKBP14, FKBP14-AS1 (L12fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1798383	NM_017946.4(FKBP14):c.297G>A (p.Glu99=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1794658	NM_017946.4(FKBP14):c.267C>T (p.Asp89=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1794431	NM_017946.4(FKBP14):c.265G>A (p.Asp89Asn)	FKBP14, FKBP14-AS1 (D89N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1786874	NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp)	FKBP14, FKBP14-AS1 (G72D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1781636	NM_017946.4(FKBP14):c.186A>G (p.Leu62=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1778335	NM_017946.4(FKBP14):c.16T>C (p.Trp6Arg)	FKBP14, FKBP14-AS1 (W6R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1770570	NM_017946.4(FKBP14):c.134G>A (p.Gly45Glu)	FKBP14, FKBP14-AS1 (G45E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1748358	NM_017946.4(FKBP14):c.556G>A (p.Asp186Asn)	FKBP14-AS1, FKBP14 (D186N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1747169	NM_017946.4(FKBP14):c.537T>A (p.His179Gln)	FKBP14, FKBP14-AS1 (H179Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1746688	NM_017946.4(FKBP14):c.52A>T (p.Ile18Phe)	FKBP14, FKBP14-AS1 (I18F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1745981	NM_017946.4(FKBP14):c.519G>A (p.Ala173=)	FKBP14-AS1, FKBP14	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1745524	NM_017946.4(FKBP14):c.512A>G (p.His171Arg)	FKBP14, FKBP14-AS1 (H171R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1740760	NM_017946.4(FKBP14):c.445C>T (p.Leu149Phe)	FKBP14, FKBP14-AS1 (L149F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1739227	NM_017946.4(FKBP14):c.426A>G (p.Glu142=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GLikely benign
Select item 1739075	NM_017946.4(FKBP14):c.424G>C (p.Glu142Gln)	FKBP14, FKBP14-AS1 (E142Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1737734	NM_017946.4(FKBP14):c.408T>C (p.Asn136=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1734649	NM_017946.4(FKBP14):c.375G>A (p.Leu125=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1733653	NM_017946.4(FKBP14):c.365A>G (p.Glu122Gly)	FKBP14, FKBP14-AS1 (E122G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1733575	NM_017946.4(FKBP14):c.114C>T (p.Cys38=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1729937	NM_017946.4(FKBP14):c.329G>T (p.Gly110Val)	FKBP14, FKBP14-AS1 (G110V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1702255	NM_017946.4(FKBP14):c.349G>A (p.Gly117Ser)	FKBP14, FKBP14-AS1 (G117S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1693949	NM_017946.4(FKBP14):c.376A>G (p.Ile126Val)	FKBP14, FKBP14-AS1 (I126V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1666901	NM_017946.4(FKBP14):c.57G>A (p.Gly19=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1664557	NM_017946.4(FKBP14):c.624C>T (p.His208=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1661907	NM_017946.4(FKBP14):c.198-16T>A	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1652363	NM_017946.4(FKBP14):c.486A>C (p.Ala162=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1648027	NM_017946.4(FKBP14):c.477+7T>A	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1647582	NM_017946.4(FKBP14):c.558T>C (p.Asp186=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1632353	NM_017946.4(FKBP14):c.333T>C (p.Tyr111=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GLikely benign
Select item 1631940	NM_017946.4(FKBP14):c.197+16C>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1630622	NM_017946.4(FKBP14):c.349+10T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1622478	NM_017946.4(FKBP14):c.477+15_477+17del	FKBP14, FKBP14-AS1	Microsatellite (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1617483	NM_017946.4(FKBP14):c.468T>C (p.Ser156=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GLikely benign
Select item 1612367	NM_017946.4(FKBP14):c.478-14C>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1602985	NM_017946.4(FKBP14):c.198-19T>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1595127	NM_017946.4(FKBP14):c.105A>G (p.Pro35=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1575555	NM_017946.4(FKBP14):c.561T>A (p.Ile187=)	FKBP14-AS1, FKBP14	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1568174	NM_017946.4(FKBP14):c.325C>T (p.Leu109=)	FKBP14-AS1, FKBP14	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1543072	NM_017946.4(FKBP14):c.198-4A>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1522829	NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser)	FKBP14, FKBP14-AS1 (R2S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1518716	NM_017946.4(FKBP14):c.18G>C (p.Trp6Cys)	FKBP14, FKBP14-AS1 (W6C)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1514046	NM_017946.4(FKBP14):c.136G>T (p.Asp46Tyr)	FKBP14, FKBP14-AS1 (D46Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1507089	NM_017946.4(FKBP14):c.74C>G (p.Pro25Arg)	FKBP14, FKBP14-AS1 (P25R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1496201	NM_017946.4(FKBP14):c.478-1G>A	FKBP14, FKBP14-AS1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance

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