ClinVar for Gene (Select 4148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293462	NM_002381.5(MATN3):c.286C>A (p.Pro96Thr)	MATN3 (P96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247507	NC_000002.11:g.(?_20113319)_(20212392_?)dup	WDR35, MATN3	Duplication	not provided	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3123977	NM_002381.5(MATN3):c.70C>A (p.Pro24Thr)	MATN3 (P24T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123976	NM_002381.5(MATN3):c.237C>A (p.Ser79Arg)	MATN3 (S79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069182	NM_002381.5(MATN3):c.280G>A (p.Val94Ile)	MATN3 (V94I)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 3068089	NM_002381.5(MATN3):c.709C>T (p.Pro237Ser)	MATN3 (P237S)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 3065484	NM_002381.5(MATN3):c.572C>A (p.Ala191Asp)	MATN3 (A191D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 3055122	NM_002381.5(MATN3):c.1020T>C (p.Asn340=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	MATN3-related disorder	GLikely benign
Select item 3032554	NM_002381.5(MATN3):c.449del (p.Val150fs)	MATN3 (V150fs)	Deletion (frameshift variant)	MATN3-related disorder	GUncertain significance
Select item 3032470	NM_002381.5(MATN3):c.230G>C (p.Cys77Ser)	MATN3 (C77S)	Single nucleotide variant (missense variant)	MATN3-related disorder	GUncertain significance
Select item 3021712	NM_002381.5(MATN3):c.1309C>T (p.Arg437Ter)	MATN3, WDR35-DT (R437*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3021186	NM_002381.5(MATN3):c.364G>A (p.Val122Met)	MATN3 (V122M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021175	NM_002381.5(MATN3):c.1168+19del	MATN3, WDR35-DT	Deletion (intron variant)	not provided	GBenign
Select item 3016527	NM_002381.5(MATN3):c.916+19del	MATN3, WDR35-DT	Deletion (intron variant)	not provided	GBenign
Select item 3015181	NM_002381.5(MATN3):c.790+1G>T	MATN3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3012510	NM_002381.5(MATN3):c.132C>G (p.Pro44=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009223	NM_002381.5(MATN3):c.1042+5G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3004452	NM_002381.5(MATN3):c.135G>A (p.Gly45=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001508	NM_002381.5(MATN3):c.801_802del (p.Val269fs)	MATN3, WDR35-DT (V269fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3000465	NM_002381.5(MATN3):c.526G>C (p.Val176Leu)	MATN3 (V176L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999161	NM_002381.5(MATN3):c.1152T>C (p.Asp384=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997154	NM_002381.5(MATN3):c.166G>C (p.Ala56Pro)	MATN3 (A56P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2993732	NM_002381.5(MATN3):c.174C>T (p.Asp58=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987567	NM_002381.5(MATN3):c.384T>C (p.Ala128=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987485	NM_002381.5(MATN3):c.917-11T>C	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985487	NM_002381.5(MATN3):c.1169-13C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984681	NM_002381.5(MATN3):c.294A>G (p.Glu98=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984011	NM_002381.5(MATN3):c.1072G>A (p.Gly358Arg)	MATN3, WDR35-DT (G358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982003	NM_002381.5(MATN3):c.1294+1_1294+11del	MATN3, WDR35-DT	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2975133	NM_002381.5(MATN3):c.1042+10G>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971627	NM_002381.5(MATN3):c.194C>T (p.Thr65Ile)	MATN3 (T65I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970886	NM_002381.5(MATN3):c.897C>T (p.Ala299=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964172	NM_002381.5(MATN3):c.295T>C (p.Phe99Leu)	MATN3 (F99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963736	NM_002381.5(MATN3):c.876C>G (p.Ser292Arg)	MATN3, WDR35-DT (S292R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963211	NM_002381.5(MATN3):c.360G>A (p.Thr120=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955287	NM_002381.5(MATN3):c.175G>A (p.Gly59Ser)	MATN3 (G59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896081	NM_002381.5(MATN3):c.542G>A (p.Arg181Gln)	MATN3 (R181Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895174	NM_002381.5(MATN3):c.1209C>T (p.His403=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889608	NM_002381.5(MATN3):c.784T>C (p.Phe262Leu)	MATN3 (F262L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877323	NM_002381.5(MATN3):c.951T>C (p.Cys317=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832643	NM_002381.5(MATN3):c.260T>A (p.Ile87Asn)	MATN3 (I87N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821790	NM_002381.5(MATN3):c.1176C>G (p.Asp392Glu)	MATN3, WDR35-DT (D392E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820478	NM_002381.5(MATN3):c.650_651delinsAA (p.Leu217Gln)	MATN3 (L217Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 2817963	NM_002381.5(MATN3):c.521T>C (p.Phe174Ser)	MATN3 (F174S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802166	NM_002381.5(MATN3):c.645T>G (p.Ile215Met)	MATN3 (I215M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800822	NM_002381.5(MATN3):c.620C>G (p.Ala207Gly)	MATN3 (A207G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797541	NM_002381.5(MATN3):c.1327G>A (p.Glu443Lys)	MATN3, WDR35-DT (E443K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792727	NM_002381.5(MATN3):c.124C>T (p.Arg42Ter)	MATN3 (R42*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2779054	NM_002381.5(MATN3):c.1081C>A (p.His361Asn)	MATN3, WDR35-DT (H361N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776012	NM_002381.5(MATN3):c.1169-14C>T	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2773023	NM_002381.5(MATN3):c.916+17G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772820	NM_002381.5(MATN3):c.641G>T (p.Gly214Val)	MATN3 (G214V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765949	NM_002381.5(MATN3):c.1405+2T>C	MATN3, WDR35-DT	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2764764	NM_002381.5(MATN3):c.621_624dup (p.Arg209fs)	MATN3 (R209fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2761511	NM_002381.5(MATN3):c.169C>T (p.Pro57Ser)	MATN3 (P57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731695	NM_002381.5(MATN3):c.1324A>G (p.Thr442Ala)	MATN3, WDR35-DT (T442A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724111	NM_002381.5(MATN3):c.416C>A (p.Ala139Asp)	MATN3 (A139D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710376	NM_002381.5(MATN3):c.230G>T (p.Cys77Phe)	MATN3 (C77F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708867	NM_002381.5(MATN3):c.38_39inv (p.Leu13Arg)	MATN3 (L13R)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2707688	NM_002381.5(MATN3):c.1405+13G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706511	NM_002381.5(MATN3):c.834C>T (p.Val278=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701877	NM_002381.5(MATN3):c.1018A>G (p.Asn340Asp)	MATN3, WDR35-DT (N340D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650700	NM_002381.5(MATN3):c.651C>T (p.Leu217=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633402	NM_002381.5(MATN3):c.425A>G (p.Asp142Gly)	MATN3 (D142G)	Single nucleotide variant (missense variant)	MATN3-related disorder	GUncertain significance
Select item 2580217	NM_002381.5(MATN3):c.302A>G (p.Lys101Arg)	MATN3 (K101R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 2539371	NM_002381.5(MATN3):c.695T>C (p.Met232Thr)	MATN3 (M232T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534129	NM_002381.5(MATN3):c.1357G>A (p.Ala453Thr)	MATN3, WDR35-DT (A453T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411438	NM_002381.5(MATN3):c.518C>T (p.Ala173Val)	MATN3 (A173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2361949	NM_002381.5(MATN3):c.1114C>G (p.His372Asp)	MATN3, WDR35-DT (H372D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340342	NM_002381.5(MATN3):c.1310G>A (p.Arg437Gln)	MATN3, WDR35-DT (R437Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334059	NM_002381.5(MATN3):c.1334C>G (p.Ala445Gly)	MATN3, WDR35-DT (A445G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332190	NM_002381.5(MATN3):c.134G>A (p.Gly45Glu)	MATN3 (G45E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2314614	NM_002381.5(MATN3):c.34G>C (p.Gly12Arg)	MATN3 (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270468	NM_002381.5(MATN3):c.671G>T (p.Arg224Leu)	MATN3 (R224L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261438	NM_002381.5(MATN3):c.696G>A (p.Met232Ile)	MATN3 (M232I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258305	NM_002381.5(MATN3):c.208C>A (p.Arg70Ser)	MATN3 (R70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253235	NM_002381.5(MATN3):c.1394T>G (p.Leu465Arg)	MATN3, WDR35-DT (L465R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236855	NM_002381.5(MATN3):c.86A>C (p.Asp29Ala)	MATN3 (D29A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214948	NM_002381.5(MATN3):c.791C>T (p.Ala264Val)	MATN3, WDR35-DT (A264V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2170116	NM_002381.5(MATN3):c.969T>C (p.Asn323=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156741	NM_002381.5(MATN3):c.752T>C (p.Ile251Thr)	MATN3 (I251T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119086	NM_002381.5(MATN3):c.10C>T (p.Pro4Ser)	MATN3 (P4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100421	NM_002381.5(MATN3):c.625C>G (p.Arg209Gly)	MATN3 (R209G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096370	NM_002381.5(MATN3):c.176G>A (p.Gly59Asp)	MATN3 (G59D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089476	NM_002381.5(MATN3):c.578T>C (p.Ile193Thr)	MATN3 (I193T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084694	NM_002381.5(MATN3):c.1172G>A (p.Arg391His)	MATN3, WDR35-DT (R391H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2082826	NM_002381.5(MATN3):c.1412A>C (p.Asp471Ala)	WDR35-DT, MATN3 (D471A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2081950	NM_002381.5(MATN3):c.1315C>A (p.Leu439Ile)	MATN3, WDR35-DT (L439I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072123	NM_002381.5(MATN3):c.1169-6G>A	MATN3, WDR35-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2072052	NM_002381.5(MATN3):c.1192T>A (p.Ser398Thr)	MATN3, WDR35-DT (S398T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056703	NM_002381.5(MATN3):c.224G>A (p.Gly75Asp)	MATN3 (G75D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049012	NM_002381.5(MATN3):c.694A>T (p.Met232Leu)	MATN3 (M232L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036825	NM_002381.5(MATN3):c.1230C>A (p.Ala410=)	MATN3, WDR35-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032249	NM_002381.5(MATN3):c.654T>C (p.Tyr218=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026756	NM_002381.5(MATN3):c.1008_1009dup (p.Tyr337fs)	MATN3, WDR35-DT (Y337fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2024404	NM_002381.5(MATN3):c.224-20C>T	MATN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023564	NM_002381.5(MATN3):c.51C>G (p.Leu17=)	MATN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019802	NM_002381.5(MATN3):c.643dup (p.Ile215fs)	MATN3 (I215fs)	Duplication (frameshift variant)	not provided	GUncertain significance

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