ClinVar for Gene (Select 9758) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 486

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234465	NM_001368397.1(FRMPD4):c.3547G>C (p.Ala1183Pro)	FRMPD4 (A1143P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233773	NM_001368397.1(FRMPD4):c.3428G>A (p.Gly1143Glu)	FRMPD4 (G1103E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097027	NM_001368397.1(FRMPD4):c.563G>C (p.Gly188Ala)	FRMPD4 (G148A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097026	NM_001368397.1(FRMPD4):c.3682G>A (p.Gly1228Ser)	FRMPD4 (G1220S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3097025	NM_001368397.1(FRMPD4):c.338A>C (p.Lys113Thr)	FRMPD4 (K73T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097024	NM_001368397.1(FRMPD4):c.3125G>A (p.Gly1042Glu)	FRMPD4 (G1034E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097023	NM_001368397.1(FRMPD4):c.2803A>G (p.Met935Val)	FRMPD4 (M932V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097022	NM_001368397.1(FRMPD4):c.2801G>A (p.Arg934His)	FRMPD4 (R934H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097021	NM_001368397.1(FRMPD4):c.2648A>C (p.Glu883Ala)	FRMPD4 (E875A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097020	NM_001368397.1(FRMPD4):c.171G>C (p.Gln57His)	FRMPD4 (Q17H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097019	NM_001368397.1(FRMPD4):c.1636C>T (p.Leu546Phe)	FRMPD4 (L506F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3097017	NM_001368397.1(FRMPD4):c.134G>A (p.Arg45Gln)	FRMPD4 (R42Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075804	NM_001368397.1(FRMPD4):c.3598T>C (p.Ser1200Pro)	FRMPD4 (S1160P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068099	NM_001368397.1(FRMPD4):c.3004A>G (p.Met1002Val)	FRMPD4 (M1002V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 3067577	NM_001368397.1(FRMPD4):c.868G>A (p.Val290Ile)	FRMPD4 (V250I +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3064474	NM_001368397.1(FRMPD4):c.2167A>G (p.Lys723Glu)	FRMPD4 (K683E +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 3064463	NM_001368397.1(FRMPD4):c.3710C>T (p.Ser1237Leu)	FRMPD4 (S1197L +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GLikely benign
Select item 3062585	GRCh37/hg19 Xp22.2(chrX:11962592-12214448)	FRMPD4	Copy number gain	not specified	GUncertain significance
Select item 3062573	GRCh37/hg19 Xp22.2(chrX:12690537-12751085)	FRMPD4	Copy number gain	not specified	GUncertain significance
Select item 3062567	GRCh37/hg19 Xp22.2(chrX:11688762-12188817)	FRMPD4, MSL3	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062472	GRCh37/hg19 Xp22.2(chrX:12166195-12694914)	FRMPD4	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062128	NM_001368397.1(FRMPD4):c.1071-1G>A	FRMPD4	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 104	GLikely pathogenic
Select item 3056785	NM_001368397.1(FRMPD4):c.1883G>C (p.Arg628Pro)	FRMPD4 (R588P +5 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder	GUncertain significance
Select item 3051419	NM_001368397.1(FRMPD4):c.3899C>A (p.Thr1300Asn)	FRMPD4 (T1260N +5 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder	GBenign
Select item 3050291	NM_001368397.1(FRMPD4):c.1926A>G (p.Ala642=)	FRMPD4	Single nucleotide variant (synonymous variant)	FRMPD4-related disorder	GLikely benign
Select item 3046951	NM_001368397.1(FRMPD4):c.1896C>A (p.Thr632=)	FRMPD4	Single nucleotide variant (synonymous variant)	FRMPD4-related disorder	GLikely benign
Select item 3046924	NM_001368397.1(FRMPD4):c.249G>A (p.Arg83=)	FRMPD4	Single nucleotide variant (synonymous variant)	FRMPD4-related disorder	GLikely benign
Select item 3046588	NM_001368397.1(FRMPD4):c.2820C>T (p.His940=)	FRMPD4	Single nucleotide variant (synonymous variant)	FRMPD4-related disorder	GLikely benign
Select item 3041722	NM_001368397.1(FRMPD4):c.2956T>C (p.Ser986Pro)	FRMPD4 (S1023P +5 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder	GUncertain significance
Select item 3039951	NM_001368397.1(FRMPD4):c.2280C>T (p.Leu760=)	FRMPD4	Single nucleotide variant (synonymous variant)	FRMPD4-related disorder	GLikely benign
Select item 3039376	NM_001368397.1(FRMPD4):c.1452C>G (p.Leu484=)	FRMPD4	Single nucleotide variant (synonymous variant)	FRMPD4-related disorder	GLikely benign
Select item 3031732	NM_001368397.1(FRMPD4):c.1411G>A (p.Glu471Lys)	FRMPD4 (E431K +5 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder	GLikely benign
Select item 3026826	NM_001368395.3(FRMPD4):c.98C>T (p.Ser33Phe)	FRMPD4 (S33F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025181	NM_001368397.1(FRMPD4):c.5124C>T (p.Ile1708=)	FRMPD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2840087	NM_001368397.1(FRMPD4):c.3145C>T (p.Gln1049Ter)	FRMPD4 (Q1046* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2689094	NM_001368397.1(FRMPD4):c.2257G>A (p.Glu753Lys)	FRMPD4 (E713K +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2685733	GRCh37/hg19 Xp22.2(chrX:11382674-12261598)x2	ARHGAP6, FRMPD4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2673215	NM_001368397.1(FRMPD4):c.3420T>C (p.Asp1140=)	FRMPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673214	NM_001368397.1(FRMPD4):c.1596G>A (p.Ala532=)	FRMPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664433	NM_001368397.1(FRMPD4):c.1772A>C (p.Glu591Ala)	FRMPD4 (E551A +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2664054	NM_001368397.1(FRMPD4):c.3440G>A (p.Gly1147Glu)	FRMPD4 (G1107E +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2663170	NM_001368397.1(FRMPD4):c.403C>T (p.Arg135Trp)	FRMPD4 (R127W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662119	NM_001368397.1(FRMPD4):c.1415T>A (p.Met472Lys)	FRMPD4 (M432K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660015	NM_001368397.1(FRMPD4):c.4590C>T (p.Cys1530=)	FRMPD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660014	NM_001368397.1(FRMPD4):c.4080A>G (p.Pro1360=)	FRMPD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660013	NM_001368397.1(FRMPD4):c.3703G>A (p.Val1235Met)	FRMPD4 (V1195M +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660012	NM_001368397.1(FRMPD4):c.3558T>C (p.Ser1186=)	FRMPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660011	NM_001368397.1(FRMPD4):c.3398C>G (p.Ala1133Gly)	FRMPD4 (A1093G +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660010	NM_001368397.1(FRMPD4):c.3097G>A (p.Asp1033Asn)	FRMPD4 (D1025N +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660009	NM_001368397.1(FRMPD4):c.2854G>A (p.Glu952Lys)	FRMPD4 (E912K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660008	NM_001368397.1(FRMPD4):c.2712G>A (p.Ser904=)	FRMPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660007	NM_001368397.1(FRMPD4):c.1602G>T (p.Gln534His)	FRMPD4 (Q494H +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660006	NM_001368397.1(FRMPD4):c.1479G>A (p.Thr493=)	FRMPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660005	NM_001368397.1(FRMPD4):c.1068C>T (p.Ile356=)	FRMPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660004	NM_001368397.1(FRMPD4):c.985A>G (p.Ile329Val)	FRMPD4 (I289V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660003	NM_001368397.1(FRMPD4):c.405G>C (p.Arg135=)	FRMPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660002	NM_001368397.1(FRMPD4):c.380C>T (p.Pro127Leu)	FRMPD4 (P119L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660001	NM_001368397.1(FRMPD4):c.125C>T (p.Thr42Met)	FRMPD4 (T2M +4 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder +1 more	GLikely benign
Select item 2660000	NM_001368395.3(FRMPD4):c.152+7A>G	FRMPD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637727	NM_001368397.1(FRMPD4):c.867C>T (p.Phe289=)	FRMPD4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2637172	NM_001368397.1(FRMPD4):c.1304C>T (p.Ser435Leu)	FRMPD4 (S395L +5 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder	GUncertain significance
Select item 2636723	NM_001368397.1(FRMPD4):c.2812G>T (p.Ala938Ser)	FRMPD4 (A898S +5 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder	GUncertain significance
Select item 2633408	NM_001368397.1(FRMPD4):c.424A>G (p.Ser142Gly)	FRMPD4 (S102G +4 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder	GUncertain significance
Select item 2629068	NM_001368397.1(FRMPD4):c.3466T>C (p.Cys1156Arg)	FRMPD4 (C1116R +5 more)	Single nucleotide variant (missense variant)	FRMPD4-related disorder	GUncertain significance
Select item 2627811	NM_001368397.1(FRMPD4):c.2317C>G (p.Leu773Val)	FRMPD4 (L733V +5 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2626984	NM_001368397.1(FRMPD4):c.681+504C>A	FRMPD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2626913	NM_001368397.1(FRMPD4):c.1537C>T (p.Arg513Trp)	FRMPD4 (R473W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2614528	NM_001368397.1(FRMPD4):c.1022C>T (p.Ala341Val)	FRMPD4 (A338V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601119	NM_001368397.1(FRMPD4):c.2784G>T (p.Gln928His)	FRMPD4 (Q888H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2591101	NM_001368397.1(FRMPD4):c.2554G>A (p.Ala852Thr)	FRMPD4 (A812T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581963	NM_001368397.1(FRMPD4):c.62G>A (p.Gly21Asp)	FRMPD4 (G13D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580678	NM_001368397.1(FRMPD4):c.1661T>C (p.Ile554Thr)	FRMPD4 (I514T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580164	NM_001368397.1(FRMPD4):c.1411G>T (p.Glu471Ter)	FRMPD4 (E431* +5 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 104	GPathogenic
Select item 2577663	NM_001368397.1(FRMPD4):c.1525G>A (p.Ala509Thr)	FRMPD4 (A469T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577107	NM_001368397.1(FRMPD4):c.3634A>G (p.Ser1212Gly)	FRMPD4 (S1172G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576097	NM_001368397.1(FRMPD4):c.3108del (p.Lys1037fs)	FRMPD4 (K1029fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2576094	NM_001368397.1(FRMPD4):c.2503G>A (p.Glu835Lys)	FRMPD4 (E795K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574372	NM_001368397.1(FRMPD4):c.2539G>A (p.Val847Met)	FRMPD4 (V807M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573780	NM_001368397.1(FRMPD4):c.1330C>T (p.Arg444Trp)	FRMPD4 (R404W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572775	NM_001368397.1(FRMPD4):c.2549T>A (p.Ile850Asn)	FRMPD4 (I810N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572751	NM_001368397.1(FRMPD4):c.1070A>G (p.Glu357Gly)	FRMPD4 (E317G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572264	NM_001368397.1(FRMPD4):c.474C>A (p.Pro158=)	FRMPD4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2571354	NM_001368397.1(FRMPD4):c.4794C>T (p.Ser1598=)	FRMPD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2550711	NM_001368397.1(FRMPD4):c.256G>A (p.Val86Met)	FRMPD4 (V46M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545798	NM_001368397.1(FRMPD4):c.1790T>C (p.Ile597Thr)	FRMPD4 (I594T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2511764	NM_001368397.1(FRMPD4):c.2569G>A (p.Ala857Thr)	FRMPD4 (A854T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2508462	NM_001368397.1(FRMPD4):c.2200C>T (p.Pro734Ser)	FRMPD4 (P694S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2507220	NM_001368397.1(FRMPD4):c.3535A>C (p.Lys1179Gln)	FRMPD4 (K1139Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507136	NM_001368397.1(FRMPD4):c.1455C>G (p.His485Gln)	FRMPD4 (H445Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505507	NM_001368397.1(FRMPD4):c.3024dup (p.Asp1009Ter)	FRMPD4 (D1001* +5 more)	Duplication (nonsense)	Intellectual disability, X-linked 104	GLikely pathogenic
Select item 2504210	NM_001368397.1(FRMPD4):c.2221T>C (p.Tyr741His)	FRMPD4 (Y701H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504054	NM_001368397.1(FRMPD4):c.3899C>G (p.Thr1300Ser)	FRMPD4 (T1260S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499920	NM_001368397.1(FRMPD4):c.2776del (p.Gln926fs)	FRMPD4 (Q886fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2499120	NM_001368397.1(FRMPD4):c.42-3728C>T	FRMPD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2482828	NM_001368397.1(FRMPD4):c.2805G>A (p.Met935Ile)	FRMPD4 (M927I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 5