ClinVar for MedGen (Select 343162) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 120

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250399	NM_005982.4(SIX1):c.353C>T (p.Pro118Leu)	SIX1 (P118L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23	GLikely pathogenic
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)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2949059	NM_005982.4(SIX1):c.446del (p.Pro149fs)	SIX1 (P149fs)	Deletion (frameshift variant)	Branchiootic syndrome 3 +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)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2947657	NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)	SIX1 (A184T)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +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)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2944353	NM_005982.4(SIX1):c.428A>G (p.Tyr143Cys)	SIX1 (Y143C)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2937741	NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)	SIX1 (S197del)	Microsatellite (inframe_deletion)	Branchiootic syndrome 3 +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)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2935166	NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)	SIX1 (A241D)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2931495	NM_005982.4(SIX1):c.849G>A (p.Gly283=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +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 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 2533580	NM_005982.4(SIX1):c.356G>A (p.Arg119His)	SIX1 (R119H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	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 2182582	NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)	MIR9718, SIX1 (T161fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 23 +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)	Autosomal dominant nonsyndromic hearing loss 23 +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)	Branchiootic syndrome 3 +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 1720328	NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)	MIR9718, SIX1 (N174K)	Single nucleotide variant (non-coding transcript 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)	not provided +2 more	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)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1523586	NM_005982.4(SIX1):c.419G>A (p.Arg140Gln)	SIX1 (R140Q)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1517704	NM_005982.4(SIX1):c.329G>T (p.Arg110Leu)	SIX1 (R110L)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +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 +2 more	GUncertain significance
Select item 1331163	NM_005982.4(SIX1):c.615T>G (p.Pro205=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +3 more	GBenign/Likely benign
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 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 1301683	NM_005982.4(SIX1):c.561-13C>T	SIX1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1201522	NM_005982.4(SIX1):c.838G>A (p.Val280Met)	SIX1 (V280M)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +2 more	GUncertain significance
Select item 1195094	NM_005982.4(SIX1):c.561-34_561-31del	SIX1	Deletion (intron variant)	Branchiootic syndrome 3 +2 more	GBenign/Likely benign
Select item 1110577	NM_005982.4(SIX1):c.720C>T (p.His240=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 1030044	NM_005982.4(SIX1):c.620A>C (p.Glu207Ala)	SIX1 (E207A)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 999901	NC_000014.8:g.(?_60976117)_(61191013_?)dup	SIX1, SIX4 +1 more	Duplication	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 983026	NM_005982.4(SIX1):c.1A>C (p.Met1Leu)	SIX1 (M1L)	Single nucleotide variant (missense variant +1 more)	Branchiootic syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 884151	NM_005982.4(SIX1):c.-213C>T	LOC130055766, SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 884095	NM_005982.4(SIX1):c.681C>A (p.Asp227Glu)	SIX1 (D227E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 884094	NM_005982.4(SIX1):c.746C>T (p.Pro249Leu)	SIX1 (P249L)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 884035	NM_005982.4(SIX1):c.*766T>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 883290	NM_005982.4(SIX1):c.*140C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 883289	NM_005982.4(SIX1):c.*249A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 883288	NM_005982.4(SIX1):c.*266C>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 883235	NM_005982.4(SIX1):c.*858C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 882199	NM_005982.4(SIX1):c.-24C>T	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 882090	NM_005982.4(SIX1):c.*1080A>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 882089	NM_005982.4(SIX1):c.*1232T>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 882088	NM_005982.4(SIX1):c.*1251A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 880804	NM_005982.4(SIX1):c.495C>T (p.Thr165=)	MIR9718, SIX1	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 880739	NM_005982.4(SIX1):c.*688C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 805458	NM_005982.4(SIX1):c.560+7G>C	SIX1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 751952	NM_005982.4(SIX1):c.816C>T (p.Leu272=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GLikely benign
Select item 703043	NM_005982.4(SIX1):c.465G>A (p.Arg155=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +2 more	GLikely benign
Select item 689601	NM_005982.4(SIX1):c.705G>T (p.Gln235His)	SIX1 (Q235H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23	GLikely benign
Select item 666609	NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)	SIX1 (Y129S)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 633689	NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr)	SIX1 (D227Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 517597	NM_005982.4(SIX1):c.746C>A (p.Pro249Gln)	SIX1 (P249Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 497460	NM_005982.4(SIX1):c.330G>A (p.Arg110=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 497389	NM_005982.4(SIX1):c.402G>A (p.Lys134=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 493144	NM_005982.4(SIX1):c.690G>C (p.Ser230=)	SIX1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 466173	NM_005982.4(SIX1):c.644G>T (p.Ser215Ile)	SIX1 (S215I)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 466172	NM_005982.4(SIX1):c.474C>T (p.Ala158=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +3 more	GLikely benign
Select item 444331	NM_005982.4(SIX1):c.191G>A (p.Arg64His)	SIX1 (R64H)	Single nucleotide variant (missense variant)	Hearing impairment +4 more	GConflicting classifications of pathogenicity
Select item 417916	NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)	SIX1 (K154*)	Single nucleotide variant (nonsense)	Branchiootic syndrome 3 +1 more	GLikely pathogenic
Select item 313474	NM_005982.4(SIX1):c.-213C>G	LOC130055766, SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313473	NM_005982.4(SIX1):c.-185T>C	SIX1	Single nucleotide variant (5 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 313472	NM_005982.4(SIX1):c.-184A>C	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313471	NM_005982.4(SIX1):c.-161G>C	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313470	NM_005982.4(SIX1):c.-137C>T	SIX1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 313469	NM_005982.4(SIX1):c.-121C>G	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313468	NM_005982.4(SIX1):c.-84C>G	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313467	NM_005982.4(SIX1):c.-14G>T	SIX1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313466	NM_005982.4(SIX1):c.180C>G (p.Arg60=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +2 more	GBenign/Likely benign
Select item 313465	NM_005982.4(SIX1):c.578A>T (p.Asn193Ile)	SIX1 (N193I)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2