ClinVar for Gene (Select 89780) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062877	GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1	CCSAP, ABCB10 +21 more	Copy number loss	not specified	GPathogenic
Select item 2999851	NM_033131.4(WNT3A):c.399C>T (p.Ala133=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998742	NM_033131.4(WNT3A):c.27C>G (p.Leu9=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997889	NM_033131.4(WNT3A):c.243C>A (p.Phe81Leu)	WNT3A (F81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996850	NM_033131.4(WNT3A):c.781A>C (p.Thr261Pro)	WNT3A (T261P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991155	NM_033131.4(WNT3A):c.776G>T (p.Arg259Leu)	WNT3A (R259L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984042	NM_033131.4(WNT3A):c.295G>A (p.Gly99Arg)	WNT3A (G99R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975084	NM_033131.4(WNT3A):c.579+11C>T	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970462	NM_033131.4(WNT3A):c.492G>A (p.Met164Ile)	WNT3A (M164I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970060	NM_033131.4(WNT3A):c.554G>A (p.Arg185His)	WNT3A (R185H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962056	NM_033131.4(WNT3A):c.215T>G (p.Ile72Ser)	WNT3A (I72S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961384	NM_033131.4(WNT3A):c.983G>A (p.Arg328His)	WNT3A (R328H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956314	NM_033131.4(WNT3A):c.455G>T (p.Trp152Leu)	WNT3A (W152L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956304	NM_033131.4(WNT3A):c.284T>A (p.Leu95Gln)	WNT3A (L95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915357	NM_033131.4(WNT3A):c.254G>A (p.Arg85Gln)	WNT3A (R85Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909474	NM_033131.4(WNT3A):c.869T>C (p.Phe290Ser)	WNT3A (F290S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905772	NM_033131.4(WNT3A):c.995A>G (p.His332Arg)	WNT3A (H332R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900878	NM_033131.4(WNT3A):c.785A>C (p.Tyr262Ser)	WNT3A (Y262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900641	NM_033131.4(WNT3A):c.906C>T (p.His302=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888994	NM_033131.4(WNT3A):c.276C>T (p.His92=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877609	NM_033131.4(WNT3A):c.975G>A (p.Glu325=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877359	NM_033131.4(WNT3A):c.951C>T (p.Asn317=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870329	NM_033131.4(WNT3A):c.800C>A (p.Thr267Lys)	WNT3A (T267K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870169	NM_033131.4(WNT3A):c.954G>C (p.Ala318=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868573	NM_033131.4(WNT3A):c.314-19A>G	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841287	NM_033131.4(WNT3A):c.580-19T>C	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836776	NM_033131.4(WNT3A):c.25C>T (p.Leu9Phe)	WNT3A (L9F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830181	NM_033131.4(WNT3A):c.714C>T (p.Ala238=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811987	NM_033131.4(WNT3A):c.579+18A>G	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802411	NM_033131.4(WNT3A):c.192C>A (p.Pro64=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793656	NM_033131.4(WNT3A):c.580-11G>A	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793399	NM_033131.4(WNT3A):c.226G>T (p.Glu76Ter)	WNT3A (E76*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2792834	NM_033131.4(WNT3A):c.664C>G (p.Pro222Ala)	WNT3A (P222A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777963	NM_033131.4(WNT3A):c.289A>G (p.Ile97Val)	WNT3A (I97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765843	NM_033131.4(WNT3A):c.1020G>A (p.Gln340=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740069	NM_033131.4(WNT3A):c.252C>T (p.Arg84=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734103	NM_033131.4(WNT3A):c.152A>G (p.Lys51Arg)	WNT3A (K51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716598	NM_033131.4(WNT3A):c.497C>G (p.Ser166Cys)	WNT3A (S166C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715823	NM_033131.4(WNT3A):c.377G>A (p.Arg126His)	WNT3A (R126H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701165	NM_033131.4(WNT3A):c.884G>A (p.Arg295His)	WNT3A (R295H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699305	NM_033131.4(WNT3A):c.636C>A (p.Cys212Ter)	WNT3A (C212*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2617428	NM_033131.4(WNT3A):c.1042G>C (p.Val348Leu)	WNT3A (V348L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531143	NM_033131.4(WNT3A):c.743A>T (p.Glu248Val)	WNT3A (E248V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427124	NC_000001.10:g.(?_228238337)_(228238642_?)dup	WNT3A	Duplication	not provided	GUncertain significance
Select item 2418180	NM_033131.4(WNT3A):c.477C>T (p.Ile159=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383126	NM_033131.4(WNT3A):c.56G>A (p.Ser19Asn)	WNT3A (S19N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315354	NM_033131.4(WNT3A):c.965G>A (p.Arg322Gln)	WNT3A (R322Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297877	NM_033131.4(WNT3A):c.247G>A (p.Gly83Ser)	WNT3A (G83S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270497	NM_033131.4(WNT3A):c.476T>C (p.Ile159Thr)	WNT3A (I159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217517	NM_033131.4(WNT3A):c.271G>A (p.Val91Ile)	WNT3A (V91I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2200758	NM_033131.4(WNT3A):c.178G>A (p.Val60Met)	WNT3A (V60M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198809	NM_033131.4(WNT3A):c.228G>A (p.Glu76=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197633	NM_033131.4(WNT3A):c.510C>T (p.Ala170=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180282	NM_033131.4(WNT3A):c.111G>A (p.Ser37=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176738	NM_033131.4(WNT3A):c.517C>T (p.Arg173Trp)	WNT3A (R173W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171218	NM_033131.4(WNT3A):c.277G>A (p.Asp93Asn)	WNT3A (D93N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2170118	NM_033131.4(WNT3A):c.355G>A (p.Gly119Ser)	WNT3A (G119S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167022	NM_033131.4(WNT3A):c.63G>A (p.Pro21=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152528	NM_033131.4(WNT3A):c.1033G>T (p.Val345Phe)	WNT3A (V345F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133655	NM_033131.4(WNT3A):c.1007A>C (p.Tyr336Ser)	WNT3A (Y336S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126517	NM_033131.4(WNT3A):c.798C>G (p.Pro266=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097375	NM_033131.4(WNT3A):c.71+16C>G	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083105	NM_033131.4(WNT3A):c.202G>A (p.Glu68Lys)	WNT3A (E68K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070199	NM_033131.4(WNT3A):c.11T>C (p.Leu4Pro)	WNT3A (L4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059913	NM_033131.4(WNT3A):c.12C>T (p.Leu4=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018425	NM_033131.4(WNT3A):c.313+19G>A	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016172	NM_033131.4(WNT3A):c.580-7C>T	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001881	NM_033131.4(WNT3A):c.384T>C (p.Cys128=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991891	NM_033131.4(WNT3A):c.797C>T (p.Pro266Leu)	WNT3A (P266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988862	NM_033131.4(WNT3A):c.72-19C>T	WNT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1978063	NM_033131.4(WNT3A):c.50T>C (p.Leu17Pro)	WNT3A (L17P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961080	NM_033131.4(WNT3A):c.313+17G>A	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954573	NM_033131.4(WNT3A):c.579+8C>T	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944191	NM_033131.4(WNT3A):c.588C>T (p.Ala196=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943441	NM_033131.4(WNT3A):c.982C>G (p.Arg328Gly)	WNT3A (R328G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941737	NM_033131.4(WNT3A):c.520del (p.Glu174fs)	WNT3A (E174fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1941354	NM_033131.4(WNT3A):c.469G>A (p.Glu157Lys)	WNT3A (E157K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939982	NM_033131.4(WNT3A):c.72-18G>A	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939713	NM_033131.4(WNT3A):c.971G>A (p.Arg324Gln)	WNT3A (R324Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938455	NM_033131.4(WNT3A):c.88C>T (p.Pro30Ser)	WNT3A (P30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933935	NM_033131.4(WNT3A):c.1011C>A (p.Val337=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920077	NM_033131.4(WNT3A):c.314-11T>A	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911598	NM_033131.4(WNT3A):c.527G>A (p.Arg176Gln)	WNT3A (R176Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910263	NM_033131.4(WNT3A):c.246C>T (p.Arg82=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908209	NM_033131.4(WNT3A):c.580-14C>T	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905656	NM_033131.4(WNT3A):c.354C>T (p.Ala118=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903592	NM_033131.4(WNT3A):c.580-11G>T	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902754	NM_033131.4(WNT3A):c.579+16G>A	WNT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1901012	NM_033131.4(WNT3A):c.952G>C (p.Ala318Pro)	WNT3A (A318P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1713710	NM_033131.4(WNT3A):c.244C>T (p.Arg82Cys)	WNT3A (R82C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1672173	NM_033131.4(WNT3A):c.396G>A (p.Thr132=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659904	NM_033131.4(WNT3A):c.579+9G>A	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657529	NM_033131.4(WNT3A):c.912C>T (p.Ile304=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655950	NM_033131.4(WNT3A):c.313+18G>T	WNT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645580	NM_033131.4(WNT3A):c.102C>A (p.Ser34=)	WNT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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