122622[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 58348	GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3	ADSS1, AKT1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 634635	NM_152328.5(ADSS1):c.36dup (p.Gly13fs)	ADSS1, LOC130056631 (G13fs)	Duplication (frameshift variant)	Myopathy, distal, 5	GUncertain significance
Select item 3091272	NM_152328.5(ADSS1):c.37G>A (p.Gly13Ser)	ADSS1, LOC130056631 (G13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091283	NM_152328.5(ADSS1):c.53A>G (p.Lys18Arg)	ADSS1, LOC130056631 (K18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644619	NM_152328.5(ADSS1):c.78G>A (p.Ala26=)	ADSS1, LOC130056631	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274060	NM_152328.5(ADSS1):c.92C>A (p.Ser31Tyr)	ADSS1, LOC130056631 (S31Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274003	NM_152328.5(ADSS1):c.97G>C (p.Val33Leu)	ADSS1, LOC130056631 (V33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091196	NM_152328.5(ADSS1):c.101C>T (p.Thr34Met)	ADSS1, LOC130056631 (T34M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091210	NM_152328.5(ADSS1):c.103G>C (p.Val35Leu)	ADSS1, LOC130056631 (V35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091203	NM_152328.5(ADSS1):c.103G>A (p.Val35Met)	ADSS1, LOC130056631 (V35M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091231	NM_152328.5(ADSS1):c.129C>G (p.Asp43Glu)	ADSS1, LOC130056631 (D43E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274081	NM_152328.5(ADSS1):c.164C>T (p.Thr55Met)	ADSS1, LOC130056631 (T55M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091254	NM_152328.5(ADSS1):c.175A>G (p.Ile59Val)	ADSS1, LOC130056631 (I59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251526	NM_152328.5(ADSS1):c.192+3_192+21del	ADSS1	Deletion (splice donor variant +1 more)	not specified	GUncertain significance
Select item 2101148	NM_152328.5(ADSS1):c.193-5151_193-5126del	ADSS1 (M1fs)	Deletion (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1681871	NM_152328.5(ADSS1):c.193-5138_193-5113del	ADSS1 (M1fs)	Deletion (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3031731	NM_152328.5(ADSS1):c.193-5130G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related disorder	GLikely benign
Select item 1960245	NM_152328.5(ADSS1):c.193-5127_193-5125delinsGTC	ADSS1 (M1V)	Indel (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1681872	NM_152328.5(ADSS1):c.193-5127A>G	ADSS1 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 769403	NM_152328.5(ADSS1):c.193-5127A>C	ADSS1 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 1681874	NM_152328.5(ADSS1):c.193-5125G>T	ADSS1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1681873	NM_152328.5(ADSS1):c.193-5125G>C	ADSS1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1681875	NM_152328.5(ADSS1):c.193-5123T>G	ADSS1 (V2G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1189013	NM_152328.5(ADSS1):c.193-5122G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	Myopathy, distal, 5 +1 more	GBenign
Select item 1947599	NM_152328.5(ADSS1):c.193-5115A>G	ADSS1 (S5G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681876	NM_152328.5(ADSS1):c.193-5106G>A	ADSS1 (V8M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2440052	NM_152328.5(ADSS1):c.193-5103del	ADSS1 (A9fs)	Deletion (5 prime UTR variant +2 more)	Myopathy, distal, 5	GLikely pathogenic
Select item 1681877	NM_152328.5(ADSS1):c.193-5102C>T	ADSS1 (A9V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2100962	NM_152328.5(ADSS1):c.193-5091C>G	ADSS1 (Q13E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681878	NM_152328.5(ADSS1):c.193-5088G>A	ADSS1 (G14R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2555115	NM_152328.5(ADSS1):c.193-5085G>T	ADSS1 (G15C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2978241	NM_152328.5(ADSS1):c.193-5079C>T	ADSS1 (Q17*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1925089	NM_152328.5(ADSS1):c.193-5075G>A	ADSS1 (R18K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3020123	NM_152328.5(ADSS1):c.193-5064C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1963688	NM_152328.5(ADSS1):c.193-5063T>G	ADSS1 (L22R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3091302	NM_152328.5(ADSS1):c.193-5061G>A	ADSS1 (A23T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1911377	NM_152328.5(ADSS1):c.193-5058del	ADSS1	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2727613	NM_152328.5(ADSS1):c.193-5059C>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2075161	NM_152328.5(ADSS1):c.193-5057T>C	ADSS1 (L24P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2056622	NM_152328.5(ADSS1):c.193-5054C>G	ADSS1 (T25S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2106666	NM_152328.5(ADSS1):c.193-5037G>A	ADSS1 (A31T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1988439	NM_152328.5(ADSS1):c.193-5037G>T	ADSS1 (A31S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1681879	NM_152328.5(ADSS1):c.193-5036C>T	ADSS1 (A31V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681880	NM_152328.5(ADSS1):c.193-5021T>C	ADSS1 (L36P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681881	NM_152328.5(ADSS1):c.193-5017C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1932850	NM_152328.5(ADSS1):c.193-4995C>A	ADSS1 (Q45K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2438892	NM_152328.5(ADSS1):c.193-4994A>C	ADSS1 (Q45P)	Single nucleotide variant (5 prime UTR variant +2 more)	Myopathy, distal, 5	GUncertain significance
Select item 1189014	NM_152328.5(ADSS1):c.193-4992T>C	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	Myopathy, distal, 5 +1 more	GBenign
Select item 1681882	NM_152328.5(ADSS1):c.193-4988T>A	ADSS1 (L47Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Myopathy, distal, 5 +1 more	GUncertain significance
Select item 1681883	NM_152328.5(ADSS1):c.193-4981C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1681884	NM_152328.5(ADSS1):c.193-4979A>G	ADSS1 (H50R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2976502	NM_152328.5(ADSS1):c.193-4975C>G	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 797167	NM_152328.5(ADSS1):c.193-4975C>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2785587	NM_152328.5(ADSS1):c.193-4972G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 710045	NM_152328.5(ADSS1):c.193-4966T>G	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1907851	NM_152328.5(ADSS1):c.193-4956C>A	ADSS1 (P58T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 775350	NM_152328.5(ADSS1):c.193-4955C>G	ADSS1 (P58R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 725893	NM_152328.5(ADSS1):c.193-4951C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1681885	NM_152328.5(ADSS1):c.193-4945C>G	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1681886	NM_152328.5(ADSS1):c.193-4943G>T	ADSS1 (S62I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681887	NM_152328.5(ADSS1):c.193-4939C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2184633	NM_152328.5(ADSS1):c.193-4926A>C	ADSS1 (T68P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681888	NM_152328.5(ADSS1):c.193-4925C>A	ADSS1 (T68N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1944911	NM_152328.5(ADSS1):c.193-4916C>T	ADSS1 (T71M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1959802	NM_152328.5(ADSS1):c.193-4915G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1681889	NM_152328.5(ADSS1):c.193-4911G>C	ADSS1 (G73R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2080479	NM_152328.5(ADSS1):c.193-4905G>A	ADSS1 (E75K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681890	NM_152328.5(ADSS1):c.193-4905G>C	ADSS1 (E75Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1967258	NM_152328.5(ADSS1):c.193-4903G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1963825	NM_152328.5(ADSS1):c.193-4902A>G	ADSS1 (R76G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3091259	NM_152328.5(ADSS1):c.193-4892G>T	ADSS1 (R79M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2183634	NM_152328.5(ADSS1):c.193-4888C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3047057	NM_152328.5(ADSS1):c.193-4876T>C	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	ADSS1-related disorder	GLikely benign

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