Related gene-specific medical variations for Gene (Select 147912) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353929	NM_175875.5(SIX5):c.-7G>A	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	SIX5-related disorder	GLikely benign
Select item 3353280	NM_175875.5(SIX5):c.58GCG[7] (p.Ala24_Thr25insAlaAla)	LOC107075317, DM1-AS +1 more	Microsatellite (inframe_insertion)	SIX5-related disorder	GUncertain significance
Select item 3352746	NM_175875.5(SIX5):c.994G>A (p.Gly332Ser)	LOC107075317, SIX5 (G332S)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 3346907	NM_175875.5(SIX5):c.282C>G (p.Val94=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder	GLikely benign
Select item 3345090	NM_175875.5(SIX5):c.306C>T (p.Gly102=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	SIX5-related disorder	GLikely benign
Select item 3344245	NM_175875.5(SIX5):c.614T>C (p.Val205Ala)	DM1-AS, LOC107075317 +1 more (V205A)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 3318683	NM_175875.5(SIX5):c.977G>C (p.Ser326Thr)	LOC107075317, SIX5 (S326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3162588	NM_175875.5(SIX5):c.998C>T (p.Ser333Phe)	LOC107075317, SIX5 (S333F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162587	NM_175875.5(SIX5):c.956C>T (p.Ser319Phe)	LOC107075317, SIX5 (S319F)	Single nucleotide variant (missense variant)	not specified	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 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 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 3060057	NM_175875.5(SIX5):c.135GGC[4] (p.Ala50del)	DM1-AS, LOC107075317 +2 more (A50del)	Microsatellite	SIX5-related disorder	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 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 3021751	NM_175875.5(SIX5):c.687C>A (p.Asp229Glu)	DM1-AS, LOC107075317 +1 more (D229E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015612	NM_175875.5(SIX5):c.952T>C (p.Ser318Pro)	LOC107075317, SIX5 (S318P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3008773	NM_175875.5(SIX5):c.1135G>A (p.Glu379Lys)	LOC107075317, SIX5 (E379K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999672	NM_175875.5(SIX5):c.1116C>G (p.Pro372=)	SIX5, LOC107075317	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997271	NM_175875.5(SIX5):c.804-7C>T	LOC107075317, SIX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996499	NM_175875.5(SIX5):c.846A>G (p.Arg282=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2987410	NM_175875.5(SIX5):c.53C>A (p.Ala18Glu)	SIX5, DM1-AS +1 more (A18E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979694	NM_175875.5(SIX5):c.517G>T (p.Glu173Ter)	DM1-AS, LOC107075317 +1 more (E173*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2975075	NM_175875.5(SIX5):c.906C>T (p.Gly302=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971915	NM_175875.5(SIX5):c.804-14A>G	LOC107075317, SIX5	Single nucleotide variant (intron 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 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 2962756	NM_175875.5(SIX5):c.43G>T (p.Gly15Trp)	DM1-AS, LOC107075317 +1 more (G15W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2961728	NM_175875.5(SIX5):c.938C>T (p.Ala313Val)	LOC107075317, SIX5 (A313V)	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)	not provided	GLikely benign
Select item 2899916	NM_175875.5(SIX5):c.900C>G (p.Ala300=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890787	NM_175875.5(SIX5):c.246G>A (p.Thr82=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890563	NM_175875.5(SIX5):c.1047_1048insTGG (p.Ala349_Leu350insTrp)	LOC107075317, SIX5	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2884825	NM_175875.5(SIX5):c.845G>A (p.Arg282Gln)	LOC107075317, SIX5 (R282Q)	Single nucleotide variant (missense variant)	not provided	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 2882079	NM_175875.5(SIX5):c.1054G>A (p.Glu352Lys)	LOC107075317, SIX5 (E352K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874809	NM_175875.5(SIX5):c.1005A>G (p.Ala335=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	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 2852405	NM_175875.5(SIX5):c.834C>G (p.Asp278Glu)	LOC107075317, SIX5 (D278E)	Single nucleotide variant (missense variant)	not provided	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 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 2801893	NM_175875.5(SIX5):c.1027G>A (p.Val343Ile)	LOC107075317, SIX5 (V343I)	Single nucleotide variant (missense variant)	not provided	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 2793816	NM_175875.5(SIX5):c.1075C>G (p.Leu359Val)	LOC107075317, SIX5 (L359V)	Single nucleotide variant (missense variant)	not provided +1 more	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 2784788	NM_175875.5(SIX5):c.1104T>C (p.Pro368=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2716152	NM_175875.5(SIX5):c.1023C>A (p.Gly341=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709744	NM_175875.5(SIX5):c.832G>A (p.Asp278Asn)	LOC107075317, SIX5 (D278N)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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 2534565	NM_175875.5(SIX5):c.16G>T (p.Ala6Ser)	DM1-AS, LOC107075317 +1 more (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532991	NM_175875.5(SIX5):c.1103C>T (p.Pro368Leu)	LOC107075317, SIX5 (P368L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2528744	NM_175875.5(SIX5):c.1030A>T (p.Ile344Phe)	LOC107075317, SIX5 (I344F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514825	NM_175875.5(SIX5):c.1145C>T (p.Thr382Ile)	LOC107075317, SIX5 (T382I)	Single nucleotide variant (missense variant)	not specified	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 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 2435957	NM_175875.5(SIX5):c.1069G>A (p.Gly357Ser)	LOC107075317, SIX5 (G357S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 2387564	NM_175875.5(SIX5):c.931C>T (p.Pro311Ser)	LOC107075317, SIX5 (P311S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +1 more	GUncertain significance
Select item 2359580	NM_175875.5(SIX5):c.932C>T (p.Pro311Leu)	LOC107075317, SIX5 (P311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358997	NM_175875.5(SIX5):c.1075C>A (p.Leu359Met)	LOC107075317, SIX5 (L359M)	Single nucleotide variant (missense variant)	not specified	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 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 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 2297225	NM_175875.5(SIX5):c.847A>C (p.Ser283Arg)	LOC107075317, SIX5 (S283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283790	NM_175875.5(SIX5):c.22C>T (p.Pro8Ser)	DM1-AS, LOC107075317 +1 more (P8S)	Single nucleotide variant (missense variant)	not specified	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 2197460	NM_175875.5(SIX5):c.38C>T (p.Ala13Val)	DM1-AS, LOC107075317 +1 more (A13V)	Single nucleotide variant (missense variant)	not provided	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 2191559	NM_175875.5(SIX5):c.919G>A (p.Ala307Thr)	LOC107075317, SIX5 (A307T)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 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 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 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 2100302	NM_175875.5(SIX5):c.1058C>T (p.Ala353Val)	LOC107075317, SIX5 (A353V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085283	NM_175875.5(SIX5):c.161C>T (p.Ala54Val)	DM1-AS, LOC107075317 +2 more (A54V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2083786	NM_175875.5(SIX5):c.224A>T (p.Glu75Val)	DM1-AS, LOC107075317 +2 more (E75V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2079288	NM_175875.5(SIX5):c.463G>A (p.Ala155Thr)	DM1-AS, LOC107075317 +1 more (A155T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2065651	NM_175875.5(SIX5):c.1162C>T (p.Pro388Ser)	LOC107075317, SIX5 (P388S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065266	NM_175875.5(SIX5):c.1018G>C (p.Gly340Arg)	LOC107075317, SIX5 (G340R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064471	NM_175875.5(SIX5):c.834C>A (p.Asp278Glu)	SIX5, LOC107075317 (D278E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055558	NM_175875.5(SIX5):c.1000C>T (p.Pro334Ser)	LOC107075317, SIX5 (P334S)	Single nucleotide variant (missense variant)	not specified +1 more	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 2041874	NM_175875.5(SIX5):c.394C>G (p.Leu132Val)	SIX5, DM1-AS +1 more (L132V)	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

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