29401[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 2986913	NM_001085487.3(MYSM1):c.2475A>G (p.Glu825=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169778	NM_001085487.3(MYSM1):c.2473G>A (p.Glu825Lys)	MYSM1 (E825K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1516341	NM_001085487.3(MYSM1):c.2468C>A (p.Thr823Lys)	MYSM1 (T823K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233677	NM_001085487.3(MYSM1):c.2461_2464dup (p.Cys822Ter)	MYSM1 (C822*)	Duplication (nonsense)	not specified	GUncertain significance
Select item 1931008	NM_001085487.3(MYSM1):c.2454C>T (p.Thr818=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520469	NM_001085487.3(MYSM1):c.2453C>A (p.Thr818Asn)	MYSM1 (T818N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427299	NM_001085487.3(MYSM1):c.2452A>G (p.Thr818Ala)	MYSM1 (T818A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955613	NM_001085487.3(MYSM1):c.2446G>A (p.Gly816Arg)	MYSM1 (G816R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2048669	NM_001085487.3(MYSM1):c.2433C>T (p.Ser811=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182289	NM_001085487.3(MYSM1):c.2423A>G (p.Asn808Ser)	MYSM1 (N808S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1993695	NM_001085487.3(MYSM1):c.2422A>T (p.Asn808Tyr)	MYSM1 (N808Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000927	NM_001085487.3(MYSM1):c.2412G>A (p.Leu804=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169885	NM_001085487.3(MYSM1):c.2407A>T (p.Asn803Tyr)	MYSM1 (N803Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169879	NM_001085487.3(MYSM1):c.2405A>G (p.Glu802Gly)	MYSM1 (E802G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2882595	NM_001085487.3(MYSM1):c.2402T>C (p.Ile801Thr)	MYSM1 (I801T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400464	NM_001085487.3(MYSM1):c.2391C>A (p.Phe797Leu)	MYSM1 (F797L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2315215	NM_001085487.3(MYSM1):c.2369A>G (p.Asn790Ser)	MYSM1 (N790S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1346418	NM_001085487.3(MYSM1):c.2348A>G (p.Lys783Arg)	MYSM1 (K783R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964968	NM_001085487.3(MYSM1):c.2329-5A>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1507594	NM_001085487.3(MYSM1):c.2329-11_2329-7del	MYSM1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1166196	NM_001085487.3(MYSM1):c.2329-7C>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1596817	NM_001085487.3(MYSM1):c.2329-16T>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1652463	NM_001085487.3(MYSM1):c.2329-17del	MYSM1	Deletion (intron variant)	not provided	GLikely benign
Select item 2120450	NM_001085487.3(MYSM1):c.2329-19_2329-18insTAAATATAAATATATTATATTATATTTATTATATATTATTTATATATATATATATATATATTATTTAATATATATAATATTTAATATATATAATATATATTATATATATTAAAAATAAATATAAATATATAAATA	MYSM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2838512	NM_001085487.3(MYSM1):c.2329-20A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654987	NM_001085487.3(MYSM1):c.2328+9T>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633541	NM_001085487.3(MYSM1):c.2328+7T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961357	NM_001085487.3(MYSM1):c.2328+1G>A	MYSM1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1624888	NM_001085487.3(MYSM1):c.2319T>C (p.Cys773=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931880	NM_001085487.3(MYSM1):c.2318G>T (p.Cys773Phe)	MYSM1 (C773F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626842	NM_001085487.3(MYSM1):c.2311C>T (p.Leu771=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363502	NM_001085487.3(MYSM1):c.2299C>T (p.Arg767Trp)	MYSM1 (R767W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 69260	NM_001085487.3(MYSM1):c.2296C>T (p.Arg766Cys)	MYSM1 (R766C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2892947	NM_001085487.3(MYSM1):c.2292C>T (p.Ile764=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117180	NM_001085487.3(MYSM1):c.2287A>G (p.Lys763Glu)	MYSM1 (K763E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964666	NM_001085487.3(MYSM1):c.2282T>C (p.Met761Thr)	MYSM1 (M761T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381591	NM_001085487.3(MYSM1):c.2282T>G (p.Met761Arg)	MYSM1 (M761R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166702	NM_001085487.3(MYSM1):c.2279C>T (p.Pro760Leu)	MYSM1 (P760L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1959262	NM_001085487.3(MYSM1):c.2278C>T (p.Pro760Ser)	MYSM1 (P760S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414632	NM_001085487.3(MYSM1):c.2275G>A (p.Val759Ile)	MYSM1 (V759I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806143	NM_001085487.3(MYSM1):c.2271-2A>G	MYSM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1951319	NM_001085487.3(MYSM1):c.2271-15T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004279	NM_001085487.3(MYSM1):c.2271-16A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780967	NM_001085487.3(MYSM1):c.2270+19G>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2200113	NM_001085487.3(MYSM1):c.2270+10G>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169493	NM_001085487.3(MYSM1):c.2262C>T (p.Leu754=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1983395	NM_001085487.3(MYSM1):c.2261T>C (p.Leu754Pro)	MYSM1 (L754P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1981742	NM_001085487.3(MYSM1):c.2257A>G (p.Arg753Gly)	MYSM1 (R753G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997021	NM_001085487.3(MYSM1):c.2256C>T (p.Tyr752=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976769	NM_001085487.3(MYSM1):c.2249A>G (p.Glu750Gly)	MYSM1 (E750G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853714	NM_001085487.3(MYSM1):c.2235A>C (p.Thr745=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560907	NM_001085487.3(MYSM1):c.2235A>T (p.Thr745=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217400	NM_001085487.3(MYSM1):c.2204A>C (p.Glu735Ala)	MYSM1 (E735A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1169494	NM_001085487.3(MYSM1):c.2165-10G>A	MYSM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1636492	NM_001085487.3(MYSM1):c.2165-20G>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857013	NM_001085487.3(MYSM1):c.2164+1G>C	MYSM1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1445501	NM_001085487.3(MYSM1):c.2164C>T (p.Arg722Cys)	MYSM1 (R722C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390133	NM_001085487.3(MYSM1):c.2164C>A (p.Arg722Ser)	MYSM1 (R722S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355268	NM_001085487.3(MYSM1):c.2163T>C (p.Tyr721=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2965316	NM_001085487.3(MYSM1):c.2145T>C (p.Ile715=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169866	NM_001085487.3(MYSM1):c.2144T>A (p.Ile715Asn)	MYSM1 (I715N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2878819	NM_001085487.3(MYSM1):c.2112T>C (p.Ser704=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376601	NM_001085487.3(MYSM1):c.2099C>T (p.Pro700Leu)	MYSM1 (P700L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424907	NM_001085487.3(MYSM1):c.2090G>A (p.Arg697Gln)	MYSM1 (R697Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904195	NM_001085487.3(MYSM1):c.2085T>C (p.Tyr695=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121181	NM_001085487.3(MYSM1):c.2062A>G (p.Ile688Val)	MYSM1 (I688V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969253	NM_001085487.3(MYSM1):c.2056A>C (p.Lys686Gln)	MYSM1 (K686Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071044	NM_001085487.3(MYSM1):c.2037C>T (p.Tyr679=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169779	NM_001085487.3(MYSM1):c.2032-8C>A	MYSM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1642663	NM_001085487.3(MYSM1):c.2032-15T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693712	NM_001085487.3(MYSM1):c.2032-19A>T	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899028	NM_001085487.3(MYSM1):c.2031+19T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969227	NM_001085487.3(MYSM1):c.2031+18A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987950	NM_001085487.3(MYSM1):c.2031+17T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642963	NM_001085487.3(MYSM1):c.2031+14A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803302	NM_001085487.3(MYSM1):c.2031+9T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164381	NM_001085487.3(MYSM1):c.2031+8A>G	MYSM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3250421	NM_001085487.3(MYSM1):c.2030A>G (p.Gln677Arg)	MYSM1 (Q677R)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 4	GUncertain significance
Select item 2766483	NM_001085487.3(MYSM1):c.1992T>A (p.Asn664Lys)	MYSM1 (N664K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561194	NM_001085487.3(MYSM1):c.1967A>G (p.His656Arg)	MYSM1 (H656R)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 4	GPathogenic
Select item 2890121	NM_001085487.3(MYSM1):c.1946T>A (p.Phe649Tyr)	MYSM1 (F649Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501826	NM_001085487.3(MYSM1):c.1934C>T (p.Ala645Val)	MYSM1 (A645V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003839	NM_001085487.3(MYSM1):c.1920C>T (p.Ala640=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592756	NM_001085487.3(MYSM1):c.1917G>A (p.Gln639=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2199895	NM_001085487.3(MYSM1):c.1916A>G (p.Gln639Arg)	MYSM1 (Q639R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1031070	NM_001085487.3(MYSM1):c.1885C>T (p.Gln629Ter)	MYSM1 (Q629*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2097314	NM_001085487.3(MYSM1):c.1884A>G (p.Leu628=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1404552	NM_001085487.3(MYSM1):c.1873A>C (p.Ser625Arg)	MYSM1 (S625R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012010	NM_001085487.3(MYSM1):c.1843-5T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021175	NM_001085487.3(MYSM1):c.1843-6T>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 767674	NM_001085487.3(MYSM1):c.1843-8G>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1981917	NM_001085487.3(MYSM1):c.1843-9C>T	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779152	NM_001085487.3(MYSM1):c.1843-14T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747218	NM_001085487.3(MYSM1):c.1843-18A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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