ClinVar for Gene (Select 106478956) - ClinVar

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124551	NM_014641.3(MDC1):c.973G>A (p.Gly325Ser)	MDC1, MDC1-AS1 (G325S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3124550	NM_014641.3(MDC1):c.5794C>T (p.Arg1932Cys)	MDC1, MDC1-AS1 (R1932C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3124548	NM_014641.3(MDC1):c.5354C>T (p.Ala1785Val)	MDC1, MDC1-AS1 (A1785V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124547	NM_014641.3(MDC1):c.4897C>T (p.Leu1633Phe)	MDC1, MDC1-AS1 (L1633F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124546	NM_014641.3(MDC1):c.4826C>T (p.Pro1609Leu)	MDC1, MDC1-AS1 (P1609L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124545	NM_014641.3(MDC1):c.4652C>T (p.Pro1551Leu)	MDC1, MDC1-AS1 (P1551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124544	NM_014641.3(MDC1):c.4483G>A (p.Glu1495Lys)	MDC1, MDC1-AS1 (E1495K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124543	NM_014641.3(MDC1):c.3989C>T (p.Pro1330Leu)	MDC1, MDC1-AS1 (P1330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124542	NM_014641.3(MDC1):c.3749T>C (p.Leu1250Pro)	MDC1, MDC1-AS1 (L1250P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124539	NM_014641.3(MDC1):c.3382C>T (p.His1128Tyr)	MDC1, MDC1-AS1 (H1128Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124538	NM_014641.3(MDC1):c.2420G>T (p.Arg807Met)	MDC1, MDC1-AS1 (R807M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124537	NM_014641.3(MDC1):c.2329C>A (p.Pro777Thr)	MDC1, MDC1-AS1 (P777T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124536	NM_014641.3(MDC1):c.2239T>C (p.Trp747Arg)	MDC1, MDC1-AS1 (W747R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124534	NM_014641.3(MDC1):c.1723G>A (p.Gly575Arg)	MDC1, MDC1-AS1 (G575R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124533	NM_014641.3(MDC1):c.1374G>T (p.Glu458Asp)	MDC1, MDC1-AS1 (E458D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124531	NM_014641.3(MDC1):c.1124G>T (p.Gly375Val)	MDC1, MDC1-AS1 (G375V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2689409	NM_014641.3(MDC1):c.5132C>T (p.Ser1711Phe)	MDC1, MDC1-AS1 (S1711F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656342	NM_014641.3(MDC1):c.2785G>T (p.Asp929Tyr)	MDC1, MDC1-AS1 (D929Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656341	NM_014641.3(MDC1):c.3896G>A (p.Arg1299Gln)	MDC1, MDC1-AS1 (R1299Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2656340	NM_014641.3(MDC1):c.5648G>A (p.Arg1883Gln)	MDC1, MDC1-AS1 (R1883Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2622215	NM_014641.3(MDC1):c.3860C>T (p.Thr1287Ile)	MDC1, MDC1-AS1 (T1287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614625	NM_014641.3(MDC1):c.5747T>C (p.Leu1916Pro)	MDC1, MDC1-AS1 (L1916P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609755	NM_014641.3(MDC1):c.4862C>T (p.Pro1621Leu)	MDC1, MDC1-AS1 (P1621L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595484	NM_014641.3(MDC1):c.4168C>T (p.Arg1390Trp)	MDC1, MDC1-AS1 (R1390W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591980	NM_014641.3(MDC1):c.4660C>T (p.Arg1554Trp)	MDC1, MDC1-AS1 (R1554W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589585	NM_014641.3(MDC1):c.3737C>T (p.Thr1246Ile)	MDC1, MDC1-AS1 (T1246I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589321	NM_014641.3(MDC1):c.3134C>T (p.Ala1045Val)	MDC1, MDC1-AS1 (A1045V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557440	NM_014641.3(MDC1):c.1012A>T (p.Ile338Phe)	MDC1, MDC1-AS1 (I338F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557439	NM_014641.3(MDC1):c.1011G>T (p.Arg337Ser)	MDC1, MDC1-AS1 (R337S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2556084	NM_014641.3(MDC1):c.3748C>T (p.Leu1250Phe)	MDC1, MDC1-AS1 (L1250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552460	NM_014641.3(MDC1):c.4676G>A (p.Arg1559Lys)	MDC1, MDC1-AS1 (R1559K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552361	NM_014641.3(MDC1):c.2738A>G (p.Lys913Arg)	MDC1, MDC1-AS1 (K913R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548784	NM_014641.3(MDC1):c.3253G>A (p.Gly1085Arg)	MDC1, MDC1-AS1 (G1085R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543307	NM_014641.3(MDC1):c.5293G>A (p.Glu1765Lys)	MDC1, MDC1-AS1 (E1765K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541147	NM_014641.3(MDC1):c.983A>G (p.Asp328Gly)	MDC1, MDC1-AS1 (D328G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2526615	NM_014641.3(MDC1):c.1243A>C (p.Thr415Pro)	MDC1, MDC1-AS1 (T415P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519284	NM_014641.3(MDC1):c.4924A>C (p.Thr1642Pro)	MDC1, MDC1-AS1 (T1642P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486856	NM_014641.3(MDC1):c.5795G>A (p.Arg1932His)	MDC1, MDC1-AS1 (R1932H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2472546	NM_014641.3(MDC1):c.5132C>A (p.Ser1711Tyr)	MDC1, MDC1-AS1 (S1711Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466408	NM_014641.3(MDC1):c.5432G>A (p.Arg1811His)	MDC1, MDC1-AS1 (R1811H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465791	NM_014641.3(MDC1):c.1091C>T (p.Pro364Leu)	MDC1, MDC1-AS1 (P364L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2391690	NM_014641.3(MDC1):c.5077C>T (p.Pro1693Ser)	MDC1, MDC1-AS1 (P1693S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390781	NM_014641.3(MDC1):c.3191C>T (p.Pro1064Leu)	MDC1, MDC1-AS1 (P1064L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387755	NM_014641.3(MDC1):c.5434A>G (p.Lys1812Glu)	MDC1, MDC1-AS1 (K1812E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381458	NM_014641.3(MDC1):c.2844A>C (p.Arg948Ser)	MDC1, MDC1-AS1 (R948S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379246	NM_014641.3(MDC1):c.5320G>A (p.Ala1774Thr)	MDC1, MDC1-AS1 (A1774T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369796	NM_014641.3(MDC1):c.4393G>C (p.Val1465Leu)	MDC1, MDC1-AS1 (V1465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363689	NM_014641.3(MDC1):c.3098C>T (p.Ser1033Phe)	MDC1, MDC1-AS1 (S1033F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360788	NM_014641.3(MDC1):c.5213A>T (p.Asp1738Val)	MDC1, MDC1-AS1 (D1738V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360726	NM_014641.3(MDC1):c.5633G>A (p.Ser1878Asn)	MDC1, MDC1-AS1 (S1878N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340678	NM_014641.3(MDC1):c.1742C>A (p.Ala581Glu)	MDC1, MDC1-AS1 (A581E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336025	NM_014641.3(MDC1):c.1312C>T (p.Arg438Cys)	MDC1, MDC1-AS1 (R438C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330055	NM_014641.3(MDC1):c.1421A>G (p.His474Arg)	MDC1, MDC1-AS1 (H474R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329736	NM_014641.3(MDC1):c.1061A>G (p.His354Arg)	MDC1, MDC1-AS1 (H354R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2328620	NM_014641.3(MDC1):c.5544G>C (p.Glu1848Asp)	MDC1, MDC1-AS1 (E1848D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327778	NM_014641.3(MDC1):c.4037C>T (p.Pro1346Leu)	MDC1, MDC1-AS1 (P1346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319966	NM_014641.3(MDC1):c.3236G>A (p.Arg1079His)	MDC1, MDC1-AS1 (R1079H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312433	NM_014641.3(MDC1):c.1315G>T (p.Val439Leu)	MDC1, MDC1-AS1 (V439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309699	NM_014641.3(MDC1):c.4748C>T (p.Ser1583Phe)	MDC1, MDC1-AS1 (S1583F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307017	NM_014641.3(MDC1):c.4408A>T (p.Thr1470Ser)	MDC1, MDC1-AS1 (T1470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304336	NM_014641.3(MDC1):c.1076G>T (p.Arg359Met)	MDC1, MDC1-AS1 (R359M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294732	NM_014641.3(MDC1):c.2830A>G (p.Arg944Gly)	MDC1, MDC1-AS1 (R944G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293247	NM_014641.3(MDC1):c.4336G>A (p.Glu1446Lys)	MDC1, MDC1-AS1 (E1446K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274220	NM_014641.3(MDC1):c.1255C>A (p.Leu419Met)	MDC1, MDC1-AS1 (L419M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265659	NM_014641.3(MDC1):c.4901C>T (p.Thr1634Ile)	MDC1, MDC1-AS1 (T1634I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259254	NM_014641.3(MDC1):c.1614A>G (p.Ile538Met)	MDC1, MDC1-AS1 (I538M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2258754	NM_014641.3(MDC1):c.2939C>T (p.Thr980Ile)	MDC1, MDC1-AS1 (T980I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257355	NM_014641.3(MDC1):c.5243C>T (p.Pro1748Leu)	MDC1, MDC1-AS1 (P1748L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250622	NM_014641.3(MDC1):c.2198C>T (p.Ser733Phe)	MDC1, MDC1-AS1 (S733F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245079	NM_014641.3(MDC1):c.3404A>T (p.Gln1135Leu)	MDC1, MDC1-AS1 (Q1135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240672	NM_014641.3(MDC1):c.4027A>G (p.Thr1343Ala)	MDC1, MDC1-AS1 (T1343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240376	NM_014641.3(MDC1):c.4034A>G (p.Lys1345Arg)	MDC1, MDC1-AS1 (K1345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238860	NM_014641.3(MDC1):c.3661T>C (p.Ser1221Pro)	MDC1, MDC1-AS1 (S1221P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231072	NM_014641.3(MDC1):c.3853G>A (p.Val1285Met)	MDC1, MDC1-AS1 (V1285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210209	NM_014641.3(MDC1):c.4276C>A (p.Pro1426Thr)	MDC1, MDC1-AS1 (P1426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207741	NM_014641.3(MDC1):c.2930C>T (p.Pro977Leu)	MDC1, MDC1-AS1 (P977L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779891	NM_014641.3(MDC1):c.3774G>A (p.Gln1258=)	MDC1, MDC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779890	NM_014641.3(MDC1):c.3783T>C (p.Thr1261=)	MDC1, MDC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775235	NM_014641.3(MDC1):c.3601A>C (p.Thr1201Pro)	MDC1, MDC1-AS1 (T1201P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775234	NM_014641.3(MDC1):c.3609G>C (p.Val1203=)	MDC1, MDC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775233	NM_014641.3(MDC1):c.3620T>C (p.Leu1207Pro)	MDC1, MDC1-AS1 (L1207P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775232	NM_014641.3(MDC1):c.3672C>A (p.Thr1224=)	MDC1, MDC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775076	NM_014641.3(MDC1):c.3828C>T (p.Ser1276=)	MDC1, MDC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747196	NM_014641.3(MDC1):c.5079G>A (p.Pro1693=)	MDC1, MDC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725735	NM_014641.3(MDC1):c.5671A>G (p.Thr1891Ala)	MDC1, MDC1-AS1 (T1891A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716888	NM_014641.3(MDC1):c.1080T>C (p.Gly360=)	MDC1, MDC1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 716887	NM_014641.3(MDC1):c.1756T>G (p.Ser586Ala)	MDC1, MDC1-AS1 (S586A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 88