ClinVar for Gene (Select 114803) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355244	NM_001085487.3(MYSM1):c.1308C>G (p.Gly436=)	MYSM1	Single nucleotide variant (synonymous variant)	MYSM1-related disorder	GLikely benign
Select item 3298179	NM_001085487.3(MYSM1):c.1177G>T (p.Ala393Ser)	MYSM1 (A393S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298178	NM_001085487.3(MYSM1):c.1043A>C (p.Lys348Thr)	MYSM1 (K348T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3236453	NM_001085487.3(MYSM1):c.44T>G (p.Val15Gly)	LOC129930616, MYSM1 (V15G)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 4	GUncertain significance
Select item 3233677	NM_001085487.3(MYSM1):c.2461_2464dup (p.Cys822Ter)	MYSM1 (C822*)	Duplication (nonsense)	not specified	GUncertain significance
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 3169866	NM_001085487.3(MYSM1):c.2144T>A (p.Ile715Asn)	MYSM1 (I715N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169861	NM_001085487.3(MYSM1):c.1811G>A (p.Gly604Glu)	MYSM1 (G604E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169860	NM_001085487.3(MYSM1):c.1738G>C (p.Ala580Pro)	MYSM1 (A580P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169852	NM_001085487.3(MYSM1):c.1479G>C (p.Gln493His)	MYSM1 (Q493H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063410	GRCh37/hg19 1p32.1-31.3(chr1:59121165-62057570)x1	C1orf87, CYP2J2 +5 more	Copy number loss	not specified	GPathogenic
Select item 3023700	NM_001085487.3(MYSM1):c.1573-17T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013158	NM_001085487.3(MYSM1):c.669A>G (p.Val223=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012709	NM_001085487.3(MYSM1):c.1494+13C>T	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012010	NM_001085487.3(MYSM1):c.1843-5T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008396	NM_001085487.3(MYSM1):c.735C>G (p.Leu245=)	MYSM1	Single nucleotide variant (synonymous 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 3000927	NM_001085487.3(MYSM1):c.2412G>A (p.Leu804=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997839	NM_001085487.3(MYSM1):c.400-19T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996052	NM_001085487.3(MYSM1):c.296+14A>T	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996025	NM_001085487.3(MYSM1):c.65C>T (p.Pro22Leu)	LOC129930616, MYSM1 (P22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992640	NM_001085487.3(MYSM1):c.321-10_321-9del	MYSM1	Deletion (intron variant)	not provided	GBenign
Select item 2990193	NM_001085487.3(MYSM1):c.1768-19T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990108	NM_001085487.3(MYSM1):c.1842+8C>T	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990036	NM_001085487.3(MYSM1):c.1495-14T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988990	NM_001085487.3(MYSM1):c.1661+13A>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 2987512	NM_001085487.3(MYSM1):c.320+18A>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986913	NM_001085487.3(MYSM1):c.2475A>G (p.Glu825=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986512	NM_001085487.3(MYSM1):c.345C>T (p.Ala115=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985646	NM_001085487.3(MYSM1):c.1677C>T (p.Phe559=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985317	NM_001085487.3(MYSM1):c.296+13T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980418	NM_001085487.3(MYSM1):c.1700T>C (p.Phe567Ser)	MYSM1 (F567S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980156	NM_001085487.3(MYSM1):c.1717-18T>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977876	NM_001085487.3(MYSM1):c.1728G>A (p.Gln576=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977746	NM_001085487.3(MYSM1):c.1716+11T>C	MYSM1	Single nucleotide variant (intron 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 2969754	NM_001085487.3(MYSM1):c.586T>C (p.Trp196Arg)	MYSM1 (W196R)	Single nucleotide variant (missense 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 2964968	NM_001085487.3(MYSM1):c.2329-5A>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 2958397	NM_001085487.3(MYSM1):c.845A>G (p.Asn282Ser)	MYSM1 (N282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956823	NM_001085487.3(MYSM1):c.9T>G (p.Ala3=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955670	NM_001085487.3(MYSM1):c.1495-4G>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908747	NM_001085487.3(MYSM1):c.1307G>T (p.Gly436Val)	MYSM1 (G436V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905566	NM_001085487.3(MYSM1):c.1709_1710insTTGAAGA (p.Glu570delinsAspTer)	MYSM1	Insertion (nonsense)	not provided	GPathogenic
Select item 2904195	NM_001085487.3(MYSM1):c.2085T>C (p.Tyr695=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899784	NM_001085487.3(MYSM1):c.1572+8T>A	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896366	NM_001085487.3(MYSM1):c.365C>T (p.Thr122Met)	MYSM1 (T122M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892947	NM_001085487.3(MYSM1):c.2292C>T (p.Ile764=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891873	NM_001085487.3(MYSM1):c.1834G>A (p.Val612Ile)	MYSM1 (V612I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890493	NM_001085487.3(MYSM1):c.884C>T (p.Thr295Ile)	MYSM1 (T295I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2888408	NM_001085487.3(MYSM1):c.754A>C (p.Ser252Arg)	MYSM1 (S252R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2880869	NM_001085487.3(MYSM1):c.664del (p.Glu222fs)	MYSM1 (E222fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2878819	NM_001085487.3(MYSM1):c.2112T>C (p.Ser704=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869819	NM_001085487.3(MYSM1):c.1768-18_1768-17insTCTGA	MYSM1	Insertion (intron variant)	not provided	GLikely benign
Select item 2867389	NM_001085487.3(MYSM1):c.1580C>T (p.Ser527Phe)	MYSM1 (S527F)	Single nucleotide variant (missense 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 2855170	NM_001085487.3(MYSM1):c.220T>C (p.Tyr74His)	MYSM1 (Y74H)	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 2851275	NM_001085487.3(MYSM1):c.1057A>G (p.Asn353Asp)	MYSM1 (N353D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848915	NM_001085487.3(MYSM1):c.285dup (p.Tyr96fs)	MYSM1 (Y96fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2847984	NM_001085487.3(MYSM1):c.399+20A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843878	NM_001085487.3(MYSM1):c.775C>T (p.Gln259Ter)	MYSM1 (Q259*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2838512	NM_001085487.3(MYSM1):c.2329-20A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836065	NM_001085487.3(MYSM1):c.1702A>G (p.Ser568Gly)	MYSM1 (S568G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830720	NM_001085487.3(MYSM1):c.68+18G>A	LOC129930616, MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816608	NM_001085487.3(MYSM1):c.886C>T (p.Leu296=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812082	NM_001085487.3(MYSM1):c.1197G>A (p.Glu399=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808577	NM_001085487.3(MYSM1):c.209T>C (p.Leu70Ser)	MYSM1 (L70S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806126	NM_001085487.3(MYSM1):c.320+17del	MYSM1	Deletion (intron variant)	not provided	GBenign
Select item 2803302	NM_001085487.3(MYSM1):c.2031+9T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798537	NM_001085487.3(MYSM1):c.1717-9A>T	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793208	NM_001085487.3(MYSM1):c.1458A>G (p.Val486=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784193	NM_001085487.3(MYSM1):c.1517G>A (p.Arg506Gln)	MYSM1 (R506Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780967	NM_001085487.3(MYSM1):c.2270+19G>A	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 2777774	NM_001085487.3(MYSM1):c.629A>G (p.Asn210Ser)	MYSM1 (N210S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777330	NM_001085487.3(MYSM1):c.1204C>T (p.Gln402Ter)	MYSM1 (Q402*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2758279	NM_001085487.3(MYSM1):c.36G>C (p.Gly12=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757282	NM_001085487.3(MYSM1):c.1012T>C (p.Leu338=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747411	NM_001085487.3(MYSM1):c.808G>C (p.Ala270Pro)	MYSM1 (A270P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747218	NM_001085487.3(MYSM1):c.1843-18A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736792	NM_001085487.3(MYSM1):c.1842+9T>C	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731951	NM_001085487.3(MYSM1):c.1661+17A>G	MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721992	NM_001085487.3(MYSM1):c.1330A>C (p.Asn444His)	MYSM1 (N444H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717836	NM_001085487.3(MYSM1):c.1503G>A (p.Arg501=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715453	NM_001085487.3(MYSM1):c.2T>G (p.Met1Arg)	LOC129930616, MYSM1 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2714130	NM_001085487.3(MYSM1):c.152G>A (p.Trp51Ter)	MYSM1 (W51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2711809	NM_001085487.3(MYSM1):c.413G>A (p.Arg138Gln)	MYSM1 (R138Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2702977	NM_001085487.3(MYSM1):c.498G>A (p.Lys166=)	MYSM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2702976	NM_001085487.3(MYSM1):c.1756A>G (p.Ile586Val)	MYSM1 (I586V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701204	NM_001085487.3(MYSM1):c.1494+11A>G	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 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic

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