124583[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 153374	GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4	C1QTNF1, C1QTNF1-AS1 +55 more	Copy number gain	See cases	GUncertain significance
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 325665	NM_001159773.2(CANT1):c.*1794T>G	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GLikely benign
Select item 891913	NM_001159773.2(CANT1):c.*1732T>C	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 891914	NM_001159773.2(CANT1):c.*1731C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325666	NM_001159773.2(CANT1):c.*1484C>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325667	NM_001159773.2(CANT1):c.*1479C>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325668	NM_001159773.2(CANT1):c.*1476G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 325669	NM_001159773.2(CANT1):c.*1440G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 325670	NM_001159773.2(CANT1):c.*1424GAAG[1]	CANT1	Microsatellite (3 prime UTR variant)	Desbuquois syndrome	GUncertain significance
Select item 889464	NM_001159773.2(CANT1):c.*1412A>G	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325671	NM_001159773.2(CANT1):c.*1376C>G	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GLikely benign
Select item 889465	NM_001159773.2(CANT1):c.*1359C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325672	NM_001159773.2(CANT1):c.1264_1265dup	CANT1	Duplication (3 prime UTR variant)	Desbuquois syndrome	GUncertain significance
Select item 325673	NM_001159773.2(CANT1):c.*1167G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 889466	NM_001159773.2(CANT1):c.*1153C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 890147	NM_001159773.2(CANT1):c.*1149C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 325674	NM_001159773.2(CANT1):c.*1093C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 325675	NM_001159773.2(CANT1):c.*1056T>C	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 890148	NM_001159773.2(CANT1):c.*1050C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325676	NM_001159773.2(CANT1):c.*1032G>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 890149	NM_001159773.2(CANT1):c.*998G>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GLikely benign
Select item 325677	NM_001159773.2(CANT1):c.*998G>C	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325678	NM_001159773.2(CANT1):c.*964A>G	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 325679	NM_001159773.2(CANT1):c.*919C>G	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325680	NM_001159773.2(CANT1):c.*876G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325681	NM_001159773.2(CANT1):c.*847C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 890724	NM_001159773.2(CANT1):c.*837C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325682	NM_001159773.2(CANT1):c.*829G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 325683	NM_001159773.2(CANT1):c.*813G>C	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 890725	NM_001159773.2(CANT1):c.*781C>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325684	NM_001159773.2(CANT1):c.*753C>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 891966	NM_001159773.2(CANT1):c.*748T>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 891967	NM_001159773.2(CANT1):c.*696T>G	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GLikely benign
Select item 325685	NM_001159773.2(CANT1):c.*671T>C	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 325686	NM_001159773.2(CANT1):c.*664T>C	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 325687	NM_001159773.2(CANT1):c.*570G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GBenign
Select item 891968	NM_001159773.2(CANT1):c.*569C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325688	NM_001159773.2(CANT1):c.*550A>C	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325689	NM_001159773.2(CANT1):c.*450A>G	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325690	NM_001159773.2(CANT1):c.*445G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 889532	NM_001159773.2(CANT1):c.*374C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 889533	NM_001159773.2(CANT1):c.*352G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325691	NM_001159773.2(CANT1):c.*301C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325692	NM_001159773.2(CANT1):c.*223C>T	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325693	NM_001159773.2(CANT1):c.*174G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 889534	NM_001159773.2(CANT1):c.*163C>G	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 889535	NM_001159773.2(CANT1):c.*157G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GLikely benign
Select item 890196	NM_001159773.2(CANT1):c.*119G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325694	NM_001159773.2(CANT1):c.*89G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 325695	NM_001159773.2(CANT1):c.*57G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 890197	NM_001159773.2(CANT1):c.*24G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 281345	NM_001159773.2(CANT1):c.*9G>A	CANT1	Single nucleotide variant (3 prime UTR variant)	CANT1-related condition +1 more	GLikely benign
Select item 2824901	NM_001159773.2(CANT1):c.1205A>G (p.Ter402=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068314	NM_001159773.2(CANT1):c.1186G>C (p.Glu396Gln)	CANT1 (E396Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 3001313	NM_001159773.2(CANT1):c.1185C>T (p.Tyr395=)	CANT1	Single nucleotide variant (synonymous variant)	CANT1-related condition +1 more	GLikely benign
Select item 2277943	NM_001159773.2(CANT1):c.1177G>A (p.Val393Met)	CANT1 (V393M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1474978	NM_001159773.2(CANT1):c.1177G>T (p.Val393Leu)	CANT1 (V393L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643182	NM_001159773.2(CANT1):c.1176C>T (p.Ser392=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 379568	NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu)	CANT1 (G391E)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 2417672	NM_001159773.2(CANT1):c.1170C>G (p.Ile390Met)	CANT1 (I390M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022630	NM_001159773.2(CANT1):c.1164C>G (p.Thr388=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970561	NM_001159773.2(CANT1):c.1158G>C (p.Pro386=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956208	NM_001159773.2(CANT1):c.1158G>A (p.Pro386=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593741	NM_001159773.2(CANT1):c.1157C>T (p.Pro386Leu)	CANT1 (P386L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 792842	NM_001159773.2(CANT1):c.1152G>C (p.Leu384=)	CANT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2877632	NM_001159773.2(CANT1):c.1140C>T (p.Asp380=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2467782	NM_001159773.2(CANT1):c.1136T>C (p.Leu379Pro)	CANT1 (L379P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 281343	NM_001159773.2(CANT1):c.1134G>A (p.Thr378=)	CANT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1480308	NM_001159773.2(CANT1):c.1133C>T (p.Thr378Met)	CANT1 (T378M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976043	NM_001159773.2(CANT1):c.1131C>T (p.Phe377=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159916	NM_001159773.2(CANT1):c.1125G>T (p.Met375Ile)	CANT1 (M375I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512815	NM_001159773.2(CANT1):c.1124T>C (p.Met375Thr)	CANT1 (M375T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286619	NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu)	CANT1 (M375L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1717437	NM_001159773.2(CANT1):c.1117T>A (p.Tyr373Asn)	CANT1 (Y373N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642280	NM_001159773.2(CANT1):c.1113C>T (p.Ala371=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 548509	NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val)	CANT1 (A371V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2795270	NM_001159773.2(CANT1):c.1110C>T (p.Val370=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964494	NM_001159773.2(CANT1):c.1101C>T (p.Ser367=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983312	NM_001159773.2(CANT1):c.1089C>T (p.Ser363=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31019	NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp)	CANT1 (A360D)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GPathogenic
Select item 2972201	NM_001159773.2(CANT1):c.1074T>C (p.Ile358=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994440	NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn)	CANT1 (D355N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2785020	NM_001159773.2(CANT1):c.1062C>T (p.Asp354=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788364	NM_001159773.2(CANT1):c.1059C>G (p.Thr353=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 325696	NM_001159773.2(CANT1):c.1056C>T (p.Asn352=)	CANT1	Single nucleotide variant (synonymous variant)	Desbuquois dysplasia 1 +1 more	GBenign
Select item 1461337	NM_001159773.2(CANT1):c.1048del (p.Ile350fs)	CANT1 (I350fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2970526	NM_001159773.2(CANT1):c.1035G>A (p.Ser345=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001206	NM_001159773.2(CANT1):c.1030_1031insC (p.Phe344fs)	CANT1 (F344fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2776426	NM_001159773.2(CANT1):c.1029C>T (p.Gly343=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987656	NM_001159773.2(CANT1):c.1029C>A (p.Gly343=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 197368	NM_001159773.2(CANT1):c.1026C>T (p.His342=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1590938	NM_001159773.2(CANT1):c.1017C>T (p.Val339=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636709	NM_001159773.2(CANT1):c.1014G>A (p.Val338=)	CANT1	Single nucleotide variant (synonymous variant)	CANT1-related condition +1 more	GBenign/Likely benign
Select item 2608808	NM_001159773.2(CANT1):c.1013T>G (p.Val338Gly)	CANT1 (V338G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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