166379[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 369436	NM_001178007.1(BBS12):c.-391C>T	BBS12	Single nucleotide variant (genic upstream transcript variant)	Bardet-Biedl syndrome	GLikely benign
Select item 347492	NM_152618.3(BBS12):c.-157C>T	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347493	NM_152618.3(BBS12):c.-152C>G	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347494	NM_152618.3(BBS12):c.-124G>A	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GBenign
Select item 347495	NM_152618.3(BBS12):c.-109G>T	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 903588	NM_152618.3(BBS12):c.-102C>T	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347496	NM_152618.3(BBS12):c.-61G>C	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GLikely benign
Select item 1242472	NM_152618.3(BBS12):c.-10-198T>A	BBS12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174029	NM_152618.3(BBS12):c.-10-41A>T	BBS12	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 12 +1 more	GBenign
Select item 631937	NM_152618.3(BBS12):c.2dup (p.Met1fs)	BBS12 (M1fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 551815	NM_152618.3(BBS12):c.1A>C (p.Met1Leu)	BBS12 (M1L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 556158	NM_152618.3(BBS12):c.2T>C (p.Met1Thr)	BBS12 (M1T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2214951	NM_152618.3(BBS12):c.5T>C (p.Val2Ala)	BBS12 (V2A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2415157	NM_152618.3(BBS12):c.10G>T (p.Ala4Ser)	BBS12 (A4S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 797161	NM_152618.3(BBS12):c.12T>C (p.Ala4=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2731414	NM_152618.3(BBS12):c.16A>C (p.Arg6=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1144298	NM_152618.3(BBS12):c.18A>G (p.Arg6=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 965999	NM_152618.3(BBS12):c.19G>A (p.Val7Ile)	BBS12 (V7I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1653221	NM_152618.3(BBS12):c.21C>A (p.Val7=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 699932	NM_152618.3(BBS12):c.21C>T (p.Val7=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2176281	NM_152618.3(BBS12):c.22G>A (p.Val8Ile)	BBS12 (V8I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1384347	NM_152618.3(BBS12):c.27_30del (p.Asn9fs)	BBS12 (N9fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 554595	NM_152618.3(BBS12):c.29_31del (p.Lys10del)	BBS12 (K10del)	Deletion (inframe_deletion)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 2116373	NM_152618.3(BBS12):c.29A>G (p.Lys10Arg)	BBS12 (K10R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 444639	NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)	BBS12 (R12del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1624106	NM_152618.3(BBS12):c.34A>C (p.Arg12=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1441365	NM_152618.3(BBS12):c.37C>T (p.His13Tyr)	BBS12 (H13Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2072114	NM_152618.3(BBS12):c.42G>A (p.Met14Ile)	BBS12 (M14I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 558579	NM_152618.3(BBS12):c.49dup (p.Gln17fs)	BBS12 (Q17fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 262675	NM_152618.3(BBS12):c.51A>G (p.Gln17=)	BBS12	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2033802	NM_152618.3(BBS12):c.54A>G (p.Gln18=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1391679	NM_152618.3(BBS12):c.58del (p.Ser20fs)	BBS12 (S20fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1662044	NM_152618.3(BBS12):c.57T>G (p.Leu19=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 698433	NM_152618.3(BBS12):c.60A>G (p.Ser20=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 741713	NM_152618.3(BBS12):c.63A>T (p.Ser21=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 585191	NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)	BBS12 (F22S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 462964	NM_152618.3(BBS12):c.66C>T (p.Phe22=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 851110	NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)	BBS12 (A23T)	Single nucleotide variant (missense variant)	BBS12-related disorder +1 more	GUncertain significance
Select item 947420	NM_152618.3(BBS12):c.68C>T (p.Ala23Val)	BBS12 (A23V)	Single nucleotide variant (missense variant)	BBS12-related disorder +2 more	GUncertain significance
Select item 1475907	NM_152618.3(BBS12):c.69G>A (p.Ala23=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1150446	NM_152618.3(BBS12):c.72A>G (p.Glu24=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1385703	NM_152618.3(BBS12):c.73A>G (p.Thr25Ala)	BBS12 (T25A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1614900	NM_152618.3(BBS12):c.75A>C (p.Thr25=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 701566	NM_152618.3(BBS12):c.75A>G (p.Thr25=)	BBS12	Single nucleotide variant (synonymous variant)	BBS12-related disorder +1 more	GLikely benign
Select item 1983147	NM_152618.3(BBS12):c.76G>A (p.Gly26Arg)	BBS12 (G26R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 944241	NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)	BBS12 (R27G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2772025	NM_152618.3(BBS12):c.80del (p.Arg27fs)	BBS12 (R27fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1138206	NM_152618.3(BBS12):c.87C>T (p.Phe29=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2498307	NM_152618.3(BBS12):c.95del (p.Pro32fs)	BBS12 (P32fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2092016	NM_152618.3(BBS12):c.96A>G (p.Pro32=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2059016	NM_152618.3(BBS12):c.97C>A (p.Leu33Ile)	BBS12 (L33I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1109773	NM_152618.3(BBS12):c.97C>T (p.Leu33=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1105700	NM_152618.3(BBS12):c.99A>G (p.Leu33=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1407777	NM_152618.3(BBS12):c.102ATC[1] (p.Ser36del)	BBS12 (S36del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome	GUncertain significance
Select item 781607	NM_152618.3(BBS12):c.102A>G (p.Lys34=)	BBS12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 462963	NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	BBS12 (S35*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 531843	NM_152618.3(BBS12):c.105A>T (p.Ser35=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GBenign
Select item 2186923	NM_152618.3(BBS12):c.107C>T (p.Ser36Phe)	BBS12 (S36F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2810513	NM_152618.3(BBS12):c.108C>A (p.Ser36=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1904309	NM_152618.3(BBS12):c.110A>G (p.Lys37Arg)	BBS12 (K37R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 96504	NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	BBS12 (I39T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1622943	NM_152618.3(BBS12):c.129A>G (p.Glu43=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1087706	NM_152618.3(BBS12):c.135T>C (p.His45=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1054028	NM_152618.3(BBS12):c.140G>A (p.Ser47Asn)	BBS12 (S47N)	Single nucleotide variant (missense variant)	BBS12-related disorder +2 more	GUncertain significance
Select item 2750091	NM_152618.3(BBS12):c.141T>C (p.Ser47=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1006119	NM_152618.3(BBS12):c.143T>C (p.Val48Ala)	BBS12 (V48A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2127096	NM_152618.3(BBS12):c.147A>G (p.Leu49=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2707949	NM_152618.3(BBS12):c.150C>T (p.Ile50=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 968505	NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)	BBS12 (S51T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1918849	NM_152618.3(BBS12):c.158C>T (p.Thr53Ile)	BBS12 (T53I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1567359	NM_152618.3(BBS12):c.163A>C (p.Arg55=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2191597	NM_152618.3(BBS12):c.165G>C (p.Arg55Ser)	BBS12 (R55S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1623429	NM_152618.3(BBS12):c.165G>A (p.Arg55=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1408984	NM_152618.3(BBS12):c.166C>T (p.Leu56Phe)	BBS12 (L56F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2736447	NM_152618.3(BBS12):c.168del (p.Glu58fs)	BBS12 (E58fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1075926	NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)	BBS12 (E58*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1460214	NM_152618.3(BBS12):c.189del (p.Ser64fs)	BBS12 (S64fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1145497	NM_152618.3(BBS12):c.189C>T (p.Thr63=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1056243	NM_152618.3(BBS12):c.191G>A (p.Ser64Asn)	BBS12 (S64N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 968094	NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)	BBS12 (S64T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 847519	NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)	BBS12 (G67E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2905490	NM_152618.3(BBS12):c.201A>T (p.Gly67=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2899879	NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)	BBS12 (Q68*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 1566370	NM_152618.3(BBS12):c.204A>G (p.Gln68=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 215969	NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)	BBS12 (N71S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1537756	NM_152618.3(BBS12):c.222T>G (p.Val74=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2498319	NM_152618.3(BBS12):c.223del (p.Gln75fs)	BBS12 (Q75fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1922070	NM_152618.3(BBS12):c.227C>T (p.Ala76Val)	BBS12 (A76V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2100128	NM_152618.3(BBS12):c.228A>G (p.Ala76=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1086197	NM_152618.3(BBS12):c.231A>G (p.Gln77=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1150659	NM_152618.3(BBS12):c.234C>T (p.Asn78=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 697125	NM_152618.3(BBS12):c.237C>T (p.Asn79=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2898986	NM_152618.3(BBS12):c.240A>G (p.Thr80=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2050594	NM_152618.3(BBS12):c.241T>C (p.Tyr81His)	BBS12 (Y81H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 766860	NM_152618.3(BBS12):c.243T>C (p.Tyr81=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign

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