ClinVar for Gene (Select 4600) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297104	NM_002463.2(MX2):c.1730T>C (p.Met577Thr)	MX2 (M577T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297103	NM_002463.2(MX2):c.818C>T (p.Thr273Met)	MX2 (T273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297101	NM_002463.2(MX2):c.922A>G (p.Met308Val)	MX2 (M308V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297100	NM_002463.2(MX2):c.1805C>T (p.Thr602Met)	MX2 (T602M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297099	NM_002463.2(MX2):c.1760T>C (p.Val587Ala)	MX2 (V587A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3152065	NM_002463.2(MX2):c.967A>G (p.Met323Val)	MX2 (M323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152058	NM_002463.2(MX2):c.769C>A (p.Gln257Lys)	MX2 (Q257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152018	NM_002463.2(MX2):c.34A>G (p.Arg12Gly)	MX2 (R12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152016	NM_002463.2(MX2):c.347T>A (p.Leu116Gln)	MX2 (L116Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151992	NM_002463.2(MX2):c.1793A>G (p.Asn598Ser)	MX2 (N598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151981	NM_002463.2(MX2):c.1603G>T (p.Ala535Ser)	MX2 (A535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151951	NM_002463.2(MX2):c.1300G>A (p.Glu434Lys)	MX2 (E434K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151949	NM_002463.2(MX2):c.1249G>A (p.Asp417Asn)	MX2 (D417N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151944	NM_002463.2(MX2):c.1216C>T (p.Arg406Cys)	MX2 (R406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684916	GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3	B3GALT5, BACE2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652679	NM_002463.2(MX2):c.2049T>C (p.Ser683=)	MX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652678	NM_002463.2(MX2):c.1222G>A (p.Gly408Arg)	MX2 (G408R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2614073	NM_002463.2(MX2):c.556G>T (p.Val186Leu)	MX2 (V186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611452	NM_002463.2(MX2):c.1552A>G (p.Ser518Gly)	MX2 (S518G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609188	NM_002463.2(MX2):c.251G>A (p.Gly84Glu)	MX2 (G84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603419	NM_002463.2(MX2):c.493G>A (p.Glu165Lys)	MX2 (E165K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597424	NM_002463.2(MX2):c.292C>T (p.Arg98Cys)	MX2 (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594591	NM_002463.2(MX2):c.1160C>T (p.Pro387Leu)	MX2 (P387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541402	NM_002463.2(MX2):c.665C>T (p.Thr222Ile)	MX2 (T222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541401	NM_002463.2(MX2):c.1487T>C (p.Val496Ala)	MX2 (V496A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536301	NM_002463.2(MX2):c.2108G>A (p.Arg703Gln)	MX2 (R703Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535667	NM_002463.2(MX2):c.693G>T (p.Arg231Ser)	MX2 (R231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529150	NM_002463.2(MX2):c.75A>C (p.Glu25Asp)	MX2 (E25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524088	NM_002463.2(MX2):c.682G>A (p.Gly228Ser)	MX2 (G228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523728	NM_002463.2(MX2):c.1154C>T (p.Ser385Leu)	MX2 (S385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521041	NM_002463.2(MX2):c.244G>A (p.Ala82Thr)	MX2 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520832	NM_002463.2(MX2):c.851C>T (p.Pro284Leu)	MX2 (P284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495096	NM_002463.2(MX2):c.983G>A (p.Arg328Gln)	MX2 (R328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490305	NM_002463.2(MX2):c.637A>G (p.Ile213Val)	MX2 (I213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478832	NM_002463.2(MX2):c.95A>T (p.Gln32Leu)	MX2 (Q32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475903	NM_002463.2(MX2):c.1334A>C (p.Glu445Ala)	MX2 (E445A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472603	NM_002463.2(MX2):c.1432G>A (p.Glu478Lys)	MX2 (E478K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466819	NM_002463.2(MX2):c.2002A>T (p.Ile668Leu)	MX2 (I668L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408490	NM_002463.2(MX2):c.802G>A (p.Val268Met)	MX2 (V268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399970	NM_002463.2(MX2):c.605G>A (p.Arg202Gln)	MX2 (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370317	NM_002463.2(MX2):c.724G>A (p.Gly242Arg)	MX2 (G242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369144	NM_002463.2(MX2):c.1658T>C (p.Ile553Thr)	MX2 (I553T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359790	NM_002463.2(MX2):c.742C>G (p.Leu248Val)	MX2 (L248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345664	NM_002463.2(MX2):c.1600G>A (p.Val534Met)	MX2 (V534M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313903	NM_002463.2(MX2):c.1520A>G (p.Gln507Arg)	MX2 (Q507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282742	NM_002463.2(MX2):c.1621G>A (p.Glu541Lys)	MX2 (E541K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270470	NM_002463.2(MX2):c.1643C>G (p.Thr548Ser)	MX2 (T548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264196	NM_002463.2(MX2):c.1924G>A (p.Ala642Thr)	MX2 (A642T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239515	NM_002463.2(MX2):c.1346G>A (p.Arg449His)	MX2 (R449H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235700	NM_002463.2(MX2):c.728T>A (p.Leu243Gln)	MX2 (L243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226426	NM_002463.2(MX2):c.610A>G (p.Ile204Val)	MX2 (I204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209118	NM_002463.2(MX2):c.367G>A (p.Val123Ile)	MX2 (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208234	NM_002463.2(MX2):c.1847A>G (p.Asn616Ser)	MX2 (N616S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205245	NM_002463.2(MX2):c.2113G>A (p.Ala705Thr)	MX2 (A705T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203937	NM_002463.2(MX2):c.1558C>T (p.Leu520Phe)	MX2 (L520F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1289877	NM_002463.2(MX2):c.-71-6727C>A	MX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1014005	NM_002463.2(MX2):c.373G>A (p.Gly125Arg)	MX2 (G125R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980238	GRCh37/hg19 21q22.3(chr21:42662220-42799124)x1	MX1, MX2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 688164	GRCh37/hg19 21q22.3(chr21:42714287-42943077)x1	FAM3B, MX1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 635899	Single allele	ABCG1, BACE2 +10 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	FAM3B, GET1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443779	GRCh37/hg19 21q22.3(chr21:42661850-43590844)x3	C2CD2, FAM3B +7 more	Copy number gain	See cases	GUncertain significance
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 394099	GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	ABCG1, B3GALT5 +28 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic

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