ClinVar 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)	DM1-AS, LOC107075317 +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 3348693	NM_175875.5(SIX5):c.1925G>T (p.Gly642Val)	SIX5 (G642V)	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 3318684	NM_175875.5(SIX5):c.1188G>T (p.Glu396Asp)	SIX5 (E396D)	Single nucleotide variant (missense variant)	not specified	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 3162583	NM_175875.5(SIX5):c.1871C>G (p.Pro624Arg)	SIX5 (P624R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162582	NM_175875.5(SIX5):c.1771A>T (p.Thr591Ser)	SIX5 (T591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162581	NM_175875.5(SIX5):c.1222G>A (p.Ala408Thr)	SIX5 (A408T)	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 3044173	NM_175875.5(SIX5):c.1563C>T (p.Ser521=)	SIX5	Single nucleotide variant (synonymous variant)	SIX5-related disorder	GLikely benign
Select item 3031838	NM_175875.5(SIX5):c.1564G>T (p.Gly522Trp)	SIX5 (G522W)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 3029619	NM_175875.5(SIX5):c.1272C>T (p.Pro424=)	SIX5	Single nucleotide variant (synonymous variant)	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 3010740	NM_175875.5(SIX5):c.1299G>A (p.Pro433=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3007361	NM_175875.5(SIX5):c.1465C>T (p.Gln489Ter)	SIX5 (Q489*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3001394	NM_175875.5(SIX5):c.1427C>T (p.Pro476Leu)	SIX5 (P476L)	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 2992499	NM_175875.5(SIX5):c.2088G>A (p.Leu696=)	SIX5	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 2984546	NM_175875.5(SIX5):c.1836C>T (p.His612=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2971081	NM_175875.5(SIX5):c.1867C>A (p.Pro623Thr)	SIX5 (P623T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971005	NM_175875.5(SIX5):c.1479C>T (p.Pro493=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969811	NM_175875.5(SIX5):c.1609+12T>C	SIX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969037	NM_175875.5(SIX5):c.1943C>G (p.Pro648Arg)	SIX5 (P648R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2967485	NM_175875.5(SIX5):c.2042C>T (p.Ala681Val)	SIX5 (A681V)	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 2966342	NM_175875.5(SIX5):c.1448A>C (p.Gln483Pro)	SIX5 (Q483P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966132	NM_175875.5(SIX5):c.1595C>T (p.Ser532Leu)	SIX5 (S532L)	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 2961548	NM_175875.5(SIX5):c.1349C>T (p.Ala450Val)	SIX5 (A450V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956321	NM_175875.5(SIX5):c.1967TGT[1] (p.Leu657del)	SIX5 (L657del)	Microsatellite (inframe_deletion)	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 2896988	NM_175875.5(SIX5):c.1692C>T (p.Thr564=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895422	NM_175875.5(SIX5):c.1774G>A (p.Ala592Thr)	SIX5 (A592T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892543	NM_175875.5(SIX5):c.1494A>G (p.Ala498=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890787	NM_175875.5(SIX5):c.246G>A (p.Thr82=)	LOC107075317, LOC129929037 +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 2888993	NM_175875.5(SIX5):c.1820C>A (p.Ala607Asp)	SIX5 (A607D)	Single nucleotide variant (missense variant)	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 2875569	NM_175875.5(SIX5):c.1254A>G (p.Gly418=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875235	NM_175875.5(SIX5):c.1980G>A (p.Ala660=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2872448	NM_175875.5(SIX5):c.1425G>A (p.Leu475=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856690	NM_175875.5(SIX5):c.1604C>T (p.Ala535Val)	SIX5 (A535V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2824486	NM_175875.5(SIX5):c.2061A>G (p.Thr687=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2800224	NM_175875.5(SIX5):c.1172G>A (p.Gly391Glu)	SIX5 (G391E)	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 2797281	NM_175875.5(SIX5):c.2192T>C (p.Val731Ala)	SIX5 (V731A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794405	NM_175875.5(SIX5):c.1294C>T (p.Pro432Ser)	SIX5 (P432S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2777441	NM_175875.5(SIX5):c.1304C>T (p.Ala435Val)	SIX5 (A435V)	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 2704378	NM_175875.5(SIX5):c.1916A>G (p.Asp639Gly)	SIX5 (D639G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650125	NM_175875.5(SIX5):c.1379C>T (p.Pro460Leu)	SIX5 (P460L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2635225	NM_175875.5(SIX5):c.1987C>T (p.Pro663Ser)	SIX5 (P663S)	Single nucleotide variant (missense variant)	SIX5-related disorder	GUncertain significance
Select item 2634151	NM_175875.5(SIX5):c.1400G>A (p.Ser467Asn)	SIX5 (S467N)	Single nucleotide variant (missense variant)	SIX5-related disorder +1 more	GUncertain significance
Select item 2632316	NM_175875.5(SIX5):c.1431G>C (p.Gln477His)	SIX5 (Q477H)	Single nucleotide variant (missense variant)	SIX5-related disorder	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 2630886	NM_175875.5(SIX5):c.1940T>G (p.Phe647Cys)	SIX5 (F647C)	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

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