ClinVar for Gene (Select 6495) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075842	NM_005982.4(SIX1):c.207C>T (p.Ile69=)	SIX1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3068253	NM_005982.4(SIX1):c.733A>G (p.Asn245Asp)	SIX1 (N245D)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3	GLikely pathogenic
Select item 3066285	NM_005982.4(SIX1):c.421G>T (p.Glu141Ter)	SIX1 (E141*)	Single nucleotide variant (nonsense)	Branchiootic syndrome 3	GLikely pathogenic
Select item 3032822	NM_005982.4(SIX1):c.370G>A (p.Gly124Ser)	SIX1 (G124S)	Single nucleotide variant (missense variant)	SIX1-related condition	GUncertain significance
Select item 2953634	NM_005982.4(SIX1):c.816dup (p.Gly273fs)	SIX1 (G273fs)	Duplication (frameshift variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2953157	NM_005982.4(SIX1):c.340A>G (p.Lys114Glu)	SIX1 (K114E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2949059	NM_005982.4(SIX1):c.446del (p.Pro149fs)	SIX1 (P149fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2948002	NM_005982.4(SIX1):c.487C>T (p.Leu163Phe)	MIR9718, SIX1 (L163F)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2947657	NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)	SIX1 (A184T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2947169	NM_005982.4(SIX1):c.184A>C (p.Asn62His)	SIX1 (N62H)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2944984	NM_005982.4(SIX1):c.457G>C (p.Glu153Gln)	SIX1 (E153Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2944353	NM_005982.4(SIX1):c.428A>G (p.Tyr143Cys)	SIX1 (Y143C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2937741	NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)	SIX1 (S197del)	Microsatellite (inframe_deletion)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2937573	NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)	SIX1 (E47Q)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2937288	NM_005982.4(SIX1):c.609C>T (p.Leu203=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2935182	NM_005982.4(SIX1):c.713T>A (p.Met238Lys)	SIX1 (M238K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2935166	NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)	SIX1 (A241D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2931495	NM_005982.4(SIX1):c.849G>A (p.Gly283=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 2924817	NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)	MIR9718, SIX1 (R176S)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2923781	NM_005982.4(SIX1):c.482C>G (p.Thr161Ser)	MIR9718, SIX1 (T161S)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2923373	NM_005982.4(SIX1):c.14C>A (p.Pro5Gln)	SIX1 (P5Q)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2921458	NM_005982.4(SIX1):c.852C>T (p.Ser284=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2663625	NM_005982.4(SIX1):c.220C>T (p.Gln74Ter)	SIX1 (Q74*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2662938	NM_005982.4(SIX1):c.502G>A (p.Val168Ile)	MIR9718, SIX1 (V168I)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +2 more	GUncertain significance
Select item 2644271	NC_000014.9:g.60642099A>C	SIX1	Single nucleotide variant	not provided	GBenign
Select item 2644270	NC_000014.9:g.60641729C>G	SIX1	Single nucleotide variant	not provided	GBenign
Select item 2582368	NM_005982.4(SIX1):c.175del (p.His59fs)	SIX1 (H59fs)	Deletion (frameshift variant)	Branchiootic syndrome 3	GUncertain significance
Select item 2582154	NM_005982.4(SIX1):c.103T>G (p.Trp35Gly)	SIX1 (W35G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579593	NM_005982.4(SIX1):c.216C>A (p.Ser72Arg)	SIX1 (S72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575752	NM_005982.4(SIX1):c.225C>G (p.Phe75Leu)	SIX1 (F75L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571938	NM_005982.4(SIX1):c.268G>A (p.Ala90Thr)	SIX1 (A90T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2544621	NM_005982.4(SIX1):c.724A>G (p.Arg242Gly)	SIX1 (R242G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533580	NM_005982.4(SIX1):c.356G>A (p.Arg119His)	SIX1 (R119H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2504670	NM_005982.4(SIX1):c.368A>G (p.Asp123Gly)	SIX1 (D123G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503044	NM_005982.4(SIX1):c.386_391del (p.Tyr129_Cys130del)	SIX1	Deletion (inframe_deletion)	Branchiootic syndrome 3	GLikely pathogenic
Select item 2503043	NM_005982.4(SIX1):c.307dup (p.Leu103fs)	SIX1 (L103fs)	Duplication (frameshift variant)	Branchiootic syndrome 3	GPathogenic
Select item 2499891	NM_005982.4(SIX1):c.34G>A (p.Glu12Lys)	SIX1 (E12K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431911	NM_005982.4(SIX1):c.190del (p.Arg64fs)	SIX1 (R64fs)	Deletion (frameshift variant)	Branchiootic syndrome 3	GUncertain significance
Select item 2431437	NM_005982.4(SIX1):c.84G>C (p.Glu28Asp)	SIX1 (E28D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23	GUncertain significance
Select item 2425450	NC_000014.8:g.(?_60976117)_(61447691_?)del	MNAT1, SIX1 +3 more	Deletion	not provided	GUncertain significance
Select item 2270901	NM_005982.4(SIX1):c.753A>C (p.Leu251Phe)	SIX1 (L251F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235035	NM_005982.4(SIX1):c.197T>G (p.Leu66Arg)	SIX1 (L66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206519	NM_005982.4(SIX1):c.176A>G (p.His59Arg)	SIX1 (H59R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182582	NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)	MIR9718, SIX1 (T161fs)	Duplication (frameshift variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2178593	NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)	SIX1 (G283R)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2177434	NM_005982.4(SIX1):c.543C>G (p.Ala181=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2168162	NM_005982.4(SIX1):c.561-19G>A	SIX1	Single nucleotide variant (intron variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2164663	NM_005982.4(SIX1):c.138C>T (p.Asn46=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2164655	NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)	SIX1 (S230L)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2161106	NM_005982.4(SIX1):c.421G>A (p.Glu141Lys)	SIX1 (E141K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 2158194	NM_005982.4(SIX1):c.483C>T (p.Thr161=)	MIR9718, SIX1	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2156587	NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)	SIX1 (G259C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 2154445	NM_005982.4(SIX1):c.225C>T (p.Phe75=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 2154444	NM_005982.4(SIX1):c.228G>T (p.Ser76=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 2129803	NM_005982.4(SIX1):c.447A>G (p.Pro149=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2053691	NM_005982.4(SIX1):c.811C>T (p.Leu271=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2035416	NM_005982.4(SIX1):c.570C>G (p.Thr190=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2026219	NM_005982.4(SIX1):c.3G>C (p.Met1Ile)	SIX1 (M1I)	Single nucleotide variant (missense variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2024150	NM_005982.4(SIX1):c.696T>G (p.Leu232=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1989481	NM_005982.4(SIX1):c.321C>T (p.Gly107=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1925779	NM_005982.4(SIX1):c.267G>A (p.Lys89=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1878971	NM_005982.4(SIX1):c.269C>A (p.Ala90Glu)	SIX1 (A90E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1805006	NM_005982.4(SIX1):c.500A>G (p.Gln167Arg)	MIR9718, SIX1 (Q167R)	Single nucleotide variant (non-coding transcript variant +1 more)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 1802105	NM_005982.4(SIX1):c.817_819del (p.Gly273del)	SIX1 (G273del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1723302	NM_005982.4(SIX1):c.597G>A (p.Lys199=)	SIX1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1720328	NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)	MIR9718, SIX1 (N174K)	Single nucleotide variant (missense variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1710698	NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn)	SIX1 (Y129N)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +2 more	GUncertain significance
Select item 1710420	NM_005982.4(SIX1):c.527G>A (p.Arg176Lys)	MIR9718, SIX1 (R176K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1691650	NM_005982.4(SIX1):c.533G>C (p.Arg178Thr)	MIR9718, SIX1 (R178T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1687607	NM_005982.4(SIX1):c.501G>C (p.Gln167His)	MIR9718, SIX1 (Q167H)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1630951	NM_005982.4(SIX1):c.24C>G (p.Gly8=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1583454	NM_005982.4(SIX1):c.854A>G (p.Ter285=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1581062	NM_005982.4(SIX1):c.414C>T (p.Val138=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1534494	NM_005982.4(SIX1):c.357C>T (p.Arg119=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 1523586	NM_005982.4(SIX1):c.419G>A (p.Arg140Gln)	SIX1 (R140Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1517704	NM_005982.4(SIX1):c.329G>T (p.Arg110Leu)	SIX1 (R110L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely pathogenic
Select item 1416539	NM_005982.4(SIX1):c.115G>T (p.Ala39Ser)	SIX1 (A39S)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1368628	NM_005982.4(SIX1):c.811_812del (p.Leu271fs)	SIX1 (L271fs)	Microsatellite (frameshift variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1341870	NM_005982.4(SIX1):c.328C>G (p.Arg110Gly)	SIX1 (R110G)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3	GUncertain significance
Select item 1341150	GRCh37/hg19 14q23.1(chr14:60958879-61211351)x3	MNAT1, SIX1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1331163	NM_005982.4(SIX1):c.615T>G (p.Pro205=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +4 more	GBenign/Likely benign
Select item 1327912	NM_005982.4(SIX1):c.316G>T (p.Val106Leu)	SIX1 (V106L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss	GLikely pathogenic
Select item 1327579	NM_005982.4(SIX1):c.396G>C (p.Lys132Asn)	SIX1 (K132N)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GPathogenic
Select item 1311450	NM_005982.4(SIX1):c.559A>G (p.Arg187Gly)	SIX1 (R187G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310217	NM_005982.4(SIX1):c.524G>C (p.Arg175Pro)	MIR9718, SIX1 (R175P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1308525	NM_005982.4(SIX1):c.713T>G (p.Met238Arg)	SIX1 (M238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306683	NM_005982.4(SIX1):c.568A>G (p.Thr190Ala)	SIX1 (T190A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306414	NM_005982.4(SIX1):c.531_532del (p.Asp179fs)	MIR9718, SIX1 (D179fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1305847	NM_005982.4(SIX1):c.524G>A (p.Arg175Gln)	MIR9718, SIX1 (R175Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1303085	NM_005982.4(SIX1):c.209T>G (p.Leu70Arg)	SIX1 (L70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301683	NM_005982.4(SIX1):c.561-13C>T	SIX1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 23	GLikely benign
Select item 1259369	NM_005982.4(SIX1):c.561-33_561-31del	SIX1	Deletion (intron variant)	not provided	GBenign
Select item 1229992	NM_005982.4(SIX1):c.561-31del	SIX1	Deletion (intron variant)	not provided	GBenign
Select item 1222319	NC_000014.9:g.60649493del	LOC130055766, SIX1	Deletion	not provided	GBenign

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