DM1-AS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	CCDC61, CCDC8 +115 more	Copy number loss	See cases	GPathogenic
Select item 1174287	NM_175875.5(SIX5):c.803+123C>A	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1606562	NM_175875.5(SIX5):c.792G>T (p.Ala264=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3050491	NM_175875.5(SIX5):c.774C>G (p.Thr258=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	SIX5-related disorder	GLikely benign
Select item 594586	NM_175875.5(SIX5):c.732G>A (p.Gln244=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1995118	NM_175875.5(SIX5):c.722C>T (p.Ser241Leu)	DM1-AS, LOC107075317 +1 more (S241L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 727884	NM_175875.5(SIX5):c.720G>A (p.Leu240=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 501374	NM_175875.5(SIX5):c.714C>G (p.Thr238=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1983829	NM_175875.5(SIX5):c.706A>G (p.Thr236Ala)	DM1-AS, LOC107075317 +1 more (T236A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189994	NM_175875.5(SIX5):c.704C>T (p.Ala235Val)	DM1-AS, LOC107075317 +1 more (A235V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2331161	NM_175875.5(SIX5):c.698G>A (p.Arg233His)	DM1-AS, LOC107075317 +1 more (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3021751	NM_175875.5(SIX5):c.687C>A (p.Asp229Glu)	SIX5, DM1-AS +1 more (D229E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336439	NM_175875.5(SIX5):c.671G>C (p.Arg224Pro)	DM1-AS, LOC107075317 +1 more (R224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068352	NM_175875.5(SIX5):c.668A>G (p.Asn223Ser)	DM1-AS, LOC107075317 +1 more (N223S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 1908926	NM_175875.5(SIX5):c.656G>A (p.Cys219Tyr)	DM1-AS, LOC107075317 +1 more (C219Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3162586	NM_175875.5(SIX5):c.653C>G (p.Ala218Gly)	DM1-AS, LOC107075317 +1 more (A218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1316728	NM_175875.5(SIX5):c.636C>T (p.Ser212=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918598	NM_175875.5(SIX5):c.628G>A (p.Glu210Lys)	DM1-AS, LOC107075317 +1 more (E210K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717258	NM_175875.5(SIX5):c.626A>G (p.Lys209Arg)	DM1-AS, LOC107075317 +1 more (K209R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514988	NM_175875.5(SIX5):c.624C>T (p.Phe208=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 218856	NM_175875.5(SIX5):c.617A>G (p.Tyr206Cys)	LOC107075317, DM1-AS +1 more (Y206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2829930	NM_175875.5(SIX5):c.604G>T (p.Glu202Ter)	DM1-AS, LOC107075317 +1 more (E202*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1653359	NM_175875.5(SIX5):c.603C>T (p.Gly201=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 2125099	NM_175875.5(SIX5):c.602G>T (p.Gly201Val)	DM1-AS, LOC107075317 +1 more (G201V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1569060	NM_175875.5(SIX5):c.600C>T (p.Asp200=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938877	NM_175875.5(SIX5):c.591C>T (p.Thr197=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744309	NM_175875.5(SIX5):c.576C>T (p.Phe192=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2183157	NM_175875.5(SIX5):c.558T>C (p.Tyr186=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596384	NM_175875.5(SIX5):c.549G>A (p.Val183=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +3 more	GBenign/Likely benign
Select item 1316705	NM_175875.5(SIX5):c.543C>A (p.Gly181=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2872875	NM_175875.5(SIX5):c.537G>T (p.Ala179=)	SIX5, DM1-AS +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071310	NM_175875.5(SIX5):c.528C>T (p.Arg176=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979694	NM_175875.5(SIX5):c.517G>T (p.Glu173Ter)	SIX5, DM1-AS +1 more (E173*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435958	NM_175875.5(SIX5):c.503G>A (p.Arg168His)	DM1-AS, LOC107075317 +1 more (R168H)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 2884635	NM_175875.5(SIX5):c.493C>G (p.Leu165Val)	DM1-AS, LOC107075317 +1 more (L165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681903	NM_175875.5(SIX5):c.493C>T (p.Leu165=)	LOC107075317, SIX5 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1318075	NM_175875.5(SIX5):c.492C>T (p.Tyr164=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 8598	NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)	DM1-AS, LOC107075317 +1 more (A158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631036	NM_175875.5(SIX5):c.470A>G (p.His157Arg)	DM1-AS, LOC107075317 +1 more (H157R)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 2798520	NM_175875.5(SIX5):c.468C>T (p.His156=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079288	NM_175875.5(SIX5):c.463G>A (p.Ala155Thr)	LOC107075317, SIX5 +1 more (A155T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473471	NM_175875.5(SIX5):c.457C>T (p.Pro153Ser)	DM1-AS, LOC107075317 +1 more (P153S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2994841	NM_175875.5(SIX5):c.453C>G (p.Pro151=)	SIX5, DM1-AS +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015432	NM_175875.5(SIX5):c.445A>G (p.Ser149Gly)	DM1-AS, LOC107075317 +1 more (S149G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582990	NM_175875.5(SIX5):c.436C>T (p.Leu146=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629677	NM_175875.5(SIX5):c.434G>A (p.Arg145Gln)	DM1-AS, LOC107075317 +1 more (R145Q)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 1663206	NM_175875.5(SIX5):c.423C>G (p.Ala141=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613892	NM_175875.5(SIX5):c.420C>T (p.Tyr140=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395910	NM_175875.5(SIX5):c.414C>T (p.Gly138=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041874	NM_175875.5(SIX5):c.394C>G (p.Leu132Val)	DM1-AS, LOC107075317 +1 more (L132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591605	NM_175875.5(SIX5):c.391G>C (p.Ala131Pro)	SIX5, LOC107075317 +1 more (A131P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967044	NM_175875.5(SIX5):c.382C>A (p.Arg128Ser)	DM1-AS, LOC107075317 +1 more (R128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782651	NM_175875.5(SIX5):c.375G>C (p.Pro125=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 594207	NM_175875.5(SIX5):c.369C>T (p.Ser123=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3010143	NM_175875.5(SIX5):c.347C>G (p.Pro116Arg)	DM1-AS, LOC107075317 +1 more (P116R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932399	NM_175875.5(SIX5):c.300G>A (p.Gln100=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057378	NM_175875.5(SIX5):c.297C>A (p.Leu99=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder	GLikely benign
Select item 2183158	NM_175875.5(SIX5):c.264C>G (p.Pro88=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367847	NM_175875.5(SIX5):c.258C>G (p.Phe86Leu)	DM1-AS, LOC107075317 +2 more (F86L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2631829	NM_175875.5(SIX5):c.251T>A (p.Leu84His)	DM1-AS, LOC107075317 +2 more (L84H)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 2890787	NM_175875.5(SIX5):c.246G>A (p.Thr82=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1318014	NM_175875.5(SIX5):c.238C>T (p.Pro80Ser)	DM1-AS, LOC107075317 +2 more (P80S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2630538	NM_175875.5(SIX5):c.237A>T (p.Glu79Asp)	LOC107075317, DM1-AS +2 more (E79D)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 1318058	NM_175875.5(SIX5):c.233C>T (p.Ser78Phe)	DM1-AS, LOC107075317 +2 more (S78F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2534567	NM_175875.5(SIX5):c.232T>G (p.Ser78Ala)	DM1-AS, LOC107075317 +2 more (S78A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548932	NM_175875.5(SIX5):c.230C>T (p.Ala77Val)	DM1-AS, LOC107075317 +2 more (A77V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2243357	NM_175875.5(SIX5):c.224A>C (p.Glu75Ala)	DM1-AS, LOC107075317 +2 more (E75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2083786	NM_175875.5(SIX5):c.224A>T (p.Glu75Val)	SIX5, DM1-AS +2 more (E75V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2534566	NM_175875.5(SIX5):c.221C>G (p.Pro74Arg)	DM1-AS, LOC107075317 +2 more (P74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2778062	NM_175875.5(SIX5):c.218C>T (p.Pro73Leu)	DM1-AS, LOC107075317 +2 more (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043065	NM_175875.5(SIX5):c.217C>T (p.Pro73Ser)	DM1-AS, LOC107075317 +2 more (P73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500193	NM_175875.5(SIX5):c.213G>T (p.Gly71=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3239192	NM_175875.5(SIX5):c.210C>G (p.Pro70=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302707	NM_175875.5(SIX5):c.209C>G (p.Pro70Arg)	DM1-AS, LOC107075317 +2 more (P70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1957822	NM_175875.5(SIX5):c.198C>T (p.Ser66=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3162585	NM_175875.5(SIX5):c.197C>T (p.Ser66Phe)	DM1-AS, LOC107075317 +2 more (S66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162584	NM_175875.5(SIX5):c.197C>A (p.Ser66Tyr)	DM1-AS, LOC107075317 +2 more (S66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1317730	NM_175875.5(SIX5):c.191C>T (p.Pro64Leu)	DM1-AS, LOC107075317 +2 more (P64L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2967651	NM_175875.5(SIX5):c.182C>T (p.Ala61Val)	DM1-AS, LOC107075317 +2 more (A61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163900	NM_175875.5(SIX5):c.179G>T (p.Gly60Val)	DM1-AS, LOC107075317 +2 more (G60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786662	NM_175875.5(SIX5):c.170C>A (p.Ala57Glu)	DM1-AS, LOC107075317 +2 more (A57E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708640	NM_175875.5(SIX5):c.150CGGGGC[3] (p.51GA[4])	DM1-AS, LOC107075317 +2 more	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 2085283	NM_175875.5(SIX5):c.161C>T (p.Ala54Val)	DM1-AS, LOC107075317 +2 more (A54V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2807329	NM_175875.5(SIX5):c.151G>A (p.Gly51Arg)	DM1-AS, LOC107075317 +2 more (G51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989437	NM_175875.5(SIX5):c.135GGC[6] (p.Ala50_Gly51insAla)	DM1-AS, LOC107075317 +2 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3060057	NM_175875.5(SIX5):c.135GGC[4] (p.Ala50del)	DM1-AS, LOC107075317 +2 more (A50del)	Microsatellite (inframe deletion)	SIX5-related disorder	GLikely benign
Select item 1621771	NM_175875.5(SIX5):c.111G>A (p.Gln37=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318265	NM_175875.5(SIX5):c.108G>A (p.Leu36=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 723032	NM_175875.5(SIX5):c.99C>T (p.Arg33=)	SIX5, DM1-AS +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317703	NM_175875.5(SIX5):c.78A>G (p.Glu26=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962046	NM_175875.5(SIX5):c.58GCG[6] (p.Ala24_Thr25insAla)	DM1-AS, LOC107075317 +1 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2569521	NM_175875.5(SIX5):c.73A>G (p.Thr25Ala)	DM1-AS, LOC107075317 +1 more (T25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2192116	NM_175875.5(SIX5):c.56_61dup (p.Ala20_Ala21insValAla)	DM1-AS, LOC107075317 +1 more	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1466465	NM_175875.5(SIX5):c.56T>C (p.Val19Ala)	DM1-AS, LOC107075317 +1 more (V19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987410	NM_175875.5(SIX5):c.53C>A (p.Ala18Glu)	DM1-AS, LOC107075317 +1 more (A18E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026740	NM_175875.5(SIX5):c.52G>T (p.Ala18Ser)	DM1-AS, LOC107075317 +1 more (A18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918662	NM_175875.5(SIX5):c.45G>C (p.Gly15=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder +1 more	GLikely benign
Select item 1973005	NM_175875.5(SIX5):c.45G>A (p.Gly15=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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