ClinVar for MedGen (Select 343162) - ClinVar

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Items: 94

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24314371.	NM_005982.4(SIX1):c.84G>C (p.Glu28Asp) GRCh37: Chr14:61115824 GRCh38: Chr14:60649106	SIX1	E28D	Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 24254502.	NC_000014.8:g.(?_60976117)_(61447691_?)del GRCh37: Chr14:60976117-61447691	SIX1, SIX6, TRMT5, MNAT1, SIX4		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 21825823.	NM_005982.4(SIX1):c.468_480dup (p.Thr161fs) GRCh37: Chr14:61115427-61115428 GRCh38: Chr14:60648709-60648710	SIX1, MIR9718	T161fs	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 21785934.	NM_005982.4(SIX1):c.847G>A (p.Gly283Arg) GRCh37: Chr14:61113009 GRCh38: Chr14:60646291	SIX1	G283R	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 21774345.	NM_005982.4(SIX1):c.543C>G (p.Ala181=) GRCh37: Chr14:61115365 GRCh38: Chr14:60648647	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 21681626.	NM_005982.4(SIX1):c.561-19G>A GRCh37: Chr14:61113314 GRCh38: Chr14:60646596	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 21646637.	NM_005982.4(SIX1):c.138C>T (p.Asn46=) GRCh37: Chr14:61115770 GRCh38: Chr14:60649052	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 21646558.	NM_005982.4(SIX1):c.689C>T (p.Ser230Leu) GRCh37: Chr14:61113167 GRCh38: Chr14:60646449	SIX1	S230L	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 21611069.	NM_005982.4(SIX1):c.421G>A (p.Glu141Lys) GRCh37: Chr14:61115487 GRCh38: Chr14:60648769	SIX1	E141K	not provided, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215819410.	NM_005982.4(SIX1):c.483C>T (p.Thr161=) GRCh37: Chr14:61115425 GRCh38: Chr14:60648707	MIR9718, SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 215658711.	NM_005982.4(SIX1):c.775G>T (p.Gly259Cys) GRCh37: Chr14:61113081 GRCh38: Chr14:60646363	SIX1	G259C	Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 215444512.	NM_005982.4(SIX1):c.225C>T (p.Phe75=) GRCh37: Chr14:61115683 GRCh38: Chr14:60648965	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 215444413.	NM_005982.4(SIX1):c.228G>T (p.Ser76=) GRCh37: Chr14:61115680 GRCh38: Chr14:60648962	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 212980314.	NM_005982.4(SIX1):c.447A>G (p.Pro149=) GRCh37: Chr14:61115461 GRCh38: Chr14:60648743	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 205369115.	NM_005982.4(SIX1):c.811C>T (p.Leu271=) GRCh37: Chr14:61113045 GRCh38: Chr14:60646327	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 203541616.	NM_005982.4(SIX1):c.570C>G (p.Thr190=) GRCh37: Chr14:61113286 GRCh38: Chr14:60646568	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 202621917.	NM_005982.4(SIX1):c.3G>C (p.Met1Ile) GRCh37: Chr14:61115905 GRCh38: Chr14:60649187	SIX1	M1I	Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 202415018.	NM_005982.4(SIX1):c.696T>G (p.Leu232=) GRCh37: Chr14:61113160 GRCh38: Chr14:60646442	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 198948119.	NM_005982.4(SIX1):c.321C>T (p.Gly107=) GRCh37: Chr14:61115587 GRCh38: Chr14:60648869	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 192577920.	NM_005982.4(SIX1):c.267G>A (p.Lys89=) GRCh37: Chr14:61115641 GRCh38: Chr14:60648923	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 172032821.	NM_005982.4(SIX1):c.522C>A (p.Asn174Lys) GRCh37: Chr14:61115386 GRCh38: Chr14:60648668	MIR9718, SIX1	N174K	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 168760722.	NM_005982.4(SIX1):c.501G>C (p.Gln167His) GRCh37: Chr14:61115407 GRCh38: Chr14:60648689	MIR9718, SIX1	Q167H	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Conflicting interpretations of pathogenicity (May 5, 2023)	criteria provided, conflicting interpretations
Select item 163095123.	NM_005982.4(SIX1):c.24C>G (p.Gly8=) GRCh37: Chr14:61115884 GRCh38: Chr14:60649166	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 158345424.	NM_005982.4(SIX1):c.854A>G (p.Ter285=) GRCh37: Chr14:61113002 GRCh38: Chr14:60646284	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 158106225.	NM_005982.4(SIX1):c.414C>T (p.Val138=) GRCh37: Chr14:61115494 GRCh38: Chr14:60648776	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 153449426.	NM_005982.4(SIX1):c.357C>T (p.Arg119=) GRCh37: Chr14:61115551 GRCh38: Chr14:60648833	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 152358627.	NM_005982.4(SIX1):c.419G>A (p.Arg140Gln) GRCh37: Chr14:61115489 GRCh38: Chr14:60648771	SIX1	R140Q	Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 151770428.	NM_005982.4(SIX1):c.329G>T (p.Arg110Leu) GRCh37: Chr14:61115579 GRCh38: Chr14:60648861	SIX1	R110L	Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 141653929.	NM_005982.4(SIX1):c.115G>T (p.Ala39Ser) GRCh37: Chr14:61115793 GRCh38: Chr14:60649075	SIX1	A39S	Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 136862830.	NM_005982.4(SIX1):c.811_812del (p.Leu271fs) GRCh37: Chr14:61113044-61113045 GRCh38: Chr14:60646326-60646327	SIX1	L271fs	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 133116331.	NM_005982.4(SIX1):c.615T>G (p.Pro205=) GRCh37: Chr14:61113241 GRCh38: Chr14:60646523	SIX1		not provided, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootorenal syndrome 1	Benign/Likely benign (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132757932.	NM_005982.4(SIX1):c.396G>C (p.Lys132Asn) GRCh37: Chr14:61115512 GRCh38: Chr14:60648794	SIX1	K132N	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Pathogenic (Dec 7, 2021)	no assertion criteria provided
Select item 130584733.	NM_005982.4(SIX1):c.524G>A (p.Arg175Gln) GRCh37: Chr14:61115384 GRCh38: Chr14:60648666	MIR9718, SIX1	R175Q	not provided, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130168334.	NM_005982.4(SIX1):c.561-13C>T GRCh37: Chr14:61113308 GRCh38: Chr14:60646590	SIX1		Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Nov 3, 2020)	criteria provided, single submitter
Select item 119509435.	NM_005982.4(SIX1):c.561-34_561-31del GRCh37: Chr14:61113326-61113329 GRCh38: Chr14:60646608-60646611	SIX1		Autosomal dominant nonsyndromic hearing loss 23, not provided, Branchiootic syndrome 3	Benign/Likely benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 111057736.	NM_005982.4(SIX1):c.720C>T (p.His240=) GRCh37: Chr14:61113136 GRCh38: Chr14:60646418	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely benign (Aug 19, 2020)	criteria provided, single submitter
Select item 99990137.	NC_000014.8:g.(?_60976117)_(61191013_?)dup GRCh37: Chr14:60976117-61191013	SIX1, SIX4, SIX6		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 88415138.	NM_005982.4(SIX1):c.-213C>T GRCh37: Chr14:61116120 GRCh38: Chr14:60649402	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88409539.	NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) GRCh37: Chr14:61113175 GRCh38: Chr14:60646457	SIX1	D227E	not provided, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Oct 5, 2020)	criteria provided, multiple submitters, no conflicts
Select item 88409440.	NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) GRCh37: Chr14:61113110 GRCh38: Chr14:60646392	SIX1	P249L	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 88403541.	NM_005982.4(SIX1):c.*766T>A GRCh37: Chr14:61112235 GRCh38: Chr14:60645517	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88329042.	NM_005982.4(SIX1):c.*140C>T GRCh37: Chr14:61112861 GRCh38: Chr14:60646143	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88328943.	NM_005982.4(SIX1):c.*249A>G GRCh37: Chr14:61112752 GRCh38: Chr14:60646034	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88328844.	NM_005982.4(SIX1):c.*266C>A GRCh37: Chr14:61112735 GRCh38: Chr14:60646017	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88323545.	NM_005982.4(SIX1):c.*858C>T GRCh37: Chr14:61112143 GRCh38: Chr14:60645425	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88219946.	NM_005982.4(SIX1):c.-24C>T GRCh37: Chr14:61115931 GRCh38: Chr14:60649213	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88209047.	NM_005982.4(SIX1):c.*1080A>T GRCh37: Chr14:61111921 GRCh38: Chr14:60645203	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88208948.	NM_005982.4(SIX1):c.*1232T>C GRCh37: Chr14:61111769 GRCh38: Chr14:60645051	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88208849.	NM_005982.4(SIX1):c.*1251A>G GRCh37: Chr14:61111750 GRCh38: Chr14:60645032	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88080450.	NM_005982.4(SIX1):c.495C>T (p.Thr165=) GRCh37: Chr14:61115413 GRCh38: Chr14:60648695	MIR9718, SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88073951.	NM_005982.4(SIX1):c.*688C>T GRCh37: Chr14:61112313 GRCh38: Chr14:60645595	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 75195252.	NM_005982.4(SIX1):c.816C>T (p.Leu272=) GRCh37: Chr14:61113040 GRCh38: Chr14:60646322	SIX1		Branchiootorenal syndrome 1, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided	Likely benign (Nov 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70304353.	NM_005982.4(SIX1):c.465G>A (p.Arg155=) GRCh37: Chr14:61115443 GRCh38: Chr14:60648725	SIX1		Branchiootic syndrome 3, Branchiootorenal syndrome 1, Autosomal dominant nonsyndromic hearing loss 23, not provided	Likely benign (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68960154.	NM_005982.4(SIX1):c.705G>T (p.Gln235His) GRCh37: Chr14:61113151 GRCh38: Chr14:60646433	SIX1	Q235H	Autosomal dominant nonsyndromic hearing loss 23	Likely benign	criteria provided, single submitter
Select item 66660955.	NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) GRCh37: Chr14:61115522 GRCh38: Chr14:60648804	SIX1	Y129S	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not specified, Branchiootic syndrome 1	Conflicting interpretations of pathogenicity (Jun 1, 2018)	criteria provided, conflicting interpretations
Select item 63368956.	NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) GRCh37: Chr14:61113177 GRCh38: Chr14:60646459	SIX1	D227Y	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided	Conflicting interpretations of pathogenicity (Mar 25, 2021)	criteria provided, conflicting interpretations
Select item 51759757.	NM_005982.4(SIX1):c.746C>A (p.Pro249Gln) GRCh37: Chr14:61113110 GRCh38: Chr14:60646392	SIX1	P249Q	Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, not specified, not provided	Benign/Likely benign (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49746058.	NM_005982.4(SIX1):c.330G>A (p.Arg110=) GRCh37: Chr14:61115578 GRCh38: Chr14:60648860	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided	Conflicting interpretations of pathogenicity (Jul 15, 2022)	criteria provided, conflicting interpretations
Select item 49738959.	NM_005982.4(SIX1):c.402G>A (p.Lys134=) GRCh37: Chr14:61115506 GRCh38: Chr14:60648788	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided	Conflicting interpretations of pathogenicity (Jun 29, 2022)	criteria provided, conflicting interpretations
Select item 49314460.	NM_005982.4(SIX1):c.690G>C (p.Ser230=) GRCh37: Chr14:61113166 GRCh38: Chr14:60646448	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided	Conflicting interpretations of pathogenicity (Jul 8, 2022)	criteria provided, conflicting interpretations
Select item 46617361.	NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) GRCh37: Chr14:61113212 GRCh38: Chr14:60646494	SIX1	S215I	Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 46617262.	NM_005982.4(SIX1):c.474C>T (p.Ala158=) GRCh37: Chr14:61115434 GRCh38: Chr14:60648716	SIX1		Branchiootorenal syndrome 1, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, not provided	Likely benign (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44433163.	NM_005982.4(SIX1):c.191G>A (p.Arg64His) GRCh37: Chr14:61115717 GRCh38: Chr14:60648999	SIX1	R64H	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Inborn genetic diseases, Hearing impairment, not provided	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 41791664.	NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) GRCh37: Chr14:61115448 GRCh38: Chr14:60648730	SIX1	K154*	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely pathogenic (Nov 16, 2015)	no assertion criteria provided
Select item 31347465.	NM_005982.4(SIX1):c.-213C>G GRCh37: Chr14:61116120 GRCh38: Chr14:60649402	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31347366.	NM_005982.4(SIX1):c.-185T>C GRCh37: Chr14:61116092 GRCh38: Chr14:60649374	SIX1		Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31347267.	NM_005982.4(SIX1):c.-184A>C GRCh37: Chr14:61116091 GRCh38: Chr14:60649373	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31347168.	NM_005982.4(SIX1):c.-161G>C GRCh37: Chr14:61116068 GRCh38: Chr14:60649350	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31347069.	NM_005982.4(SIX1):c.-137C>T GRCh37: Chr14:61116044 GRCh38: Chr14:60649326	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31346970.	NM_005982.4(SIX1):c.-121C>G GRCh37: Chr14:61116028 GRCh38: Chr14:60649310	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31346871.	NM_005982.4(SIX1):c.-84C>G GRCh37: Chr14:61115991 GRCh38: Chr14:60649273	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31346772.	NM_005982.4(SIX1):c.-14G>T GRCh37: Chr14:61115921 GRCh38: Chr14:60649203	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31346673.	NM_005982.4(SIX1):c.180C>G (p.Arg60=) GRCh37: Chr14:61115728 GRCh38: Chr14:60649010	SIX1		not provided, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Benign/Likely benign (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31346574.	NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) GRCh37: Chr14:61113278 GRCh38: Chr14:60646560	SIX1	N193I	not provided, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 31346475.	NM_005982.4(SIX1):c.822C>T (p.Pro274=) GRCh37: Chr14:61113034 GRCh38: Chr14:60646316	SIX1		Autosomal dominant nonsyndromic hearing loss 23, not provided, Branchiootic syndrome 3	Uncertain significance (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31346376.	NM_005982.4(SIX1):c.*161C>A GRCh37: Chr14:61112840 GRCh38: Chr14:60646122	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31346077.	NM_005982.4(SIX1):c.*297T>G GRCh37: Chr14:61112704 GRCh38: Chr14:60645986	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, not provided	Benign/Likely benign (Dec 22, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31345978.	NM_005982.4(SIX1):c.*334C>G GRCh37: Chr14:61112667 GRCh38: Chr14:60645949	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31345879.	NM_005982.4(SIX1):c.*371A>G GRCh37: Chr14:61112630 GRCh38: Chr14:60645912	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31345780.	NM_005982.4(SIX1):c.*404A>G GRCh37: Chr14:61112597 GRCh38: Chr14:60645879	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31345681.	NM_005982.4(SIX1):c.*443A>G GRCh37: Chr14:61112558 GRCh38: Chr14:60645840	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31345482.	NM_005982.4(SIX1):c.*602G>C GRCh37: Chr14:61112399 GRCh38: Chr14:60645681	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31345383.	NM_005982.4(SIX1):c.*736T>G GRCh37: Chr14:61112265 GRCh38: Chr14:60645547	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31345284.	NM_005982.4(SIX1):c.*755T>G GRCh37: Chr14:61112246 GRCh38: Chr14:60645528	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31344985.	NM_005982.4(SIX1):c.*767A>T GRCh37: Chr14:61112234 GRCh38: Chr14:60645516	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31344786.	NM_005982.4(SIX1):c.*1001T>C GRCh37: Chr14:61112000 GRCh38: Chr14:60645282	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31344587.	NM_005982.4(SIX1):c.*1044G>T GRCh37: Chr14:61111957 GRCh38: Chr14:60645239	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31344488.	NM_005982.4(SIX1):c.*1079T>A GRCh37: Chr14:61111922 GRCh38: Chr14:60645204	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31344289.	NM_005982.4(SIX1):c.*1496C>T GRCh37: Chr14:61111505 GRCh38: Chr14:60644787	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 22707590.	NM_005982.4(SIX1):c.162G>A (p.Ala54=) GRCh37: Chr14:61115746 GRCh38: Chr14:60649028	SIX1		Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Branchiootorenal syndrome 1, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, not specified, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided	Benign/Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20836191.	NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) GRCh37: Chr14:61115535 GRCh38: Chr14:60648817	SIX1	E125K	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Likely pathogenic (May 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 831092.	NM_005982.4(SIX1):c.397_399del (p.Glu133del) GRCh37: Chr14:61115509-61115511 GRCh38: Chr14:60648791-60648793	SIX1	E133del	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided, Branchiootic syndrome 3	Conflicting interpretations of pathogenicity (May 5, 2023)	criteria provided, conflicting interpretations
Select item 830993.	NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) GRCh37: Chr14:61115580 GRCh38: Chr14:60648862	SIX1	R110W	Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided	Pathogenic (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 830894.	NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) GRCh37: Chr14:61115522 GRCh38: Chr14:60648804	SIX1	Y129C	Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Branchiootorenal syndrome 1, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, not provided, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23	Pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 94