ClinVar for MedGen (Select 325373) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25028991.	NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter) GRCh37: Chr17:18046130 GRCh38: Chr17:18142816	MYO15A	Y1962*	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Nov 24, 2021)	criteria provided, single submitter
Select item 25016642.	NM_016239.4(MYO15A):c.4596+1G>A GRCh37: Chr17:18039139 GRCh38: Chr17:18135825	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Mar 1, 2023)	no assertion criteria provided
Select item 24456593.	NM_016239.4(MYO15A):c.10351-15T>G GRCh37: Chr17:18077080 GRCh38: Chr17:18173766	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456584.	NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr) GRCh37: Chr17:18064687 GRCh38: Chr17:18161373	MYO15A	C3148Y	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456575.	NM_016239.4(MYO15A):c.8831del (p.Pro2944fs) GRCh37: Chr17:18061076 GRCh38: Chr17:18157762	MYO15A	P2944fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456566.	NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter) GRCh37: Chr17:18051432 GRCh38: Chr17:18148118	MYO15A	S2200*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456557.	NM_016239.4(MYO15A):c.6194del (p.Met2065fs) GRCh37: Chr17:18047827 GRCh38: Chr17:18144513	MYO15A	M2065fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24442208.	NM_016239.4(MYO15A):c.9518-2A>G GRCh37: Chr17:18065897 GRCh38: Chr17:18162583	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24422409.	NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg) GRCh37: Chr17:18061059 GRCh38: Chr17:18157745	MYO15A	G2938R	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 243396010.	NM_016239.4(MYO15A):c.2766G>A (p.Val922=) GRCh37: Chr17:18024880 GRCh38: Chr17:18121566	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 243025611.	NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs) GRCh37: Chr17:18053838-18053839 GRCh38: Chr17:18150524-18150525	MYO15A	E2439fs	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Jan 5, 2023)	criteria provided, single submitter
Select item 223167512.	NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys) GRCh37: Chr17:18070961 GRCh38: Chr17:18167647	MYO15A	E3336K	Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Feb 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216958813.	NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His) GRCh37: Chr17:18060527 GRCh38: Chr17:18157213	MYO15A	R2924H	Autosomal recessive nonsyndromic hearing loss 3, not provided	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 187859814.	NM_016239.4(MYO15A):c.8789-2A>G GRCh37: Chr17:18061034 GRCh38: Chr17:18157720	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 180220515.	NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu) GRCh37: Chr17:18063314 GRCh38: Chr17:18160000	MYO15A	D3123E	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 179954716.	NM_016239.4(MYO15A):c.8910del (p.Val2971fs) GRCh37: Chr17:18061156 GRCh38: Chr17:18157842	MYO15A	V2971fs	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 170847017.	NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter) GRCh37: Chr17:18077169 GRCh38: Chr17:18173855	MYO15A	Y3475*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Jan 10, 2018)	criteria provided, single submitter
Select item 170558318.	NM_016239.4(MYO15A):c.8601+2T>G GRCh37: Chr17:18059652 GRCh38: Chr17:18156338	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170429019.	NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter) GRCh37: Chr17:18025588 GRCh38: Chr17:18122274	MYO15A	W1158*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Jan 21, 2017)	criteria provided, single submitter
Select item 169537320.	NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter) GRCh37: Chr17:18025690 GRCh38: Chr17:18122376	MYO15A	W1192*	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 169534521.	NM_016239.4(MYO15A):c.[5192T>C;823G>C] GRCh37: Chr17:18022937 Chr17:18042906 GRCh38: Chr17:18119623 Chr17:18139592	MYO15A, MYO15A	G275R, F1731S	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 169114322.	NM_016239.4(MYO15A):c.8968-1G>T GRCh37: Chr17:18061836 GRCh38: Chr17:18158522	MYO15A		not provided, Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168754623.	NM_016239.4(MYO15A):c.10475dup (p.Leu3493fs) GRCh37: Chr17:18077218-18077219 GRCh38: Chr17:18173904-18173905	MYO15A	L3493fs	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168752524.	NM_016239.4(MYO15A):c.581G>A (p.Arg194His) GRCh37: Chr17:18022695 GRCh38: Chr17:18119381	MYO15A	R194H	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168751725.	NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) GRCh37: Chr17:18023317-18023336 GRCh38: Chr17:18120003-18120022	MYO15A	P402fs	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168750226.	NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg) GRCh37: Chr17:18064761 GRCh38: Chr17:18161447	MYO15A	G3173R	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168748027.	NM_016239.4(MYO15A):c.3928T>G (p.Cys1310Gly) GRCh37: Chr17:18030166 GRCh38: Chr17:18126852	MYO15A	C1310G	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168732828.	NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) GRCh37: Chr17:18023972 GRCh38: Chr17:18120658	MYO15A	E620*	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 167566029.	NM_016239.4(MYO15A):c.773A>C (p.Glu258Ala) GRCh37: Chr17:18022887 GRCh38: Chr17:18119573	MYO15A	E258A	not provided, Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152622230.	NM_016239.4(MYO15A):c.4228C>T (p.His1410Tyr) GRCh37: Chr17:18035788 GRCh38: Chr17:18132474	MYO15A	H1410Y	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 148207931.	NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met) GRCh37: Chr17:18044399 GRCh38: Chr17:18141085	MYO15A	V1825M	not provided, Autosomal recessive nonsyndromic hearing loss 3	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 147653432.	NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser) GRCh37: Chr17:18057202 GRCh38: Chr17:18153888	MYO15A	R2694S	not provided, Autosomal recessive nonsyndromic hearing loss 3	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 146285933.	NM_016239.4(MYO15A):c.4038+3A>G GRCh37: Chr17:18034127 GRCh38: Chr17:18130813	MYO15A		Autosomal recessive nonsyndromic hearing loss 3, not provided	Uncertain significance (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142822734.	NM_016239.4(MYO15A):c.4779+5G>A GRCh37: Chr17:18040005 GRCh38: Chr17:18136691	MYO15A		not provided, Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135112135.	NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu) GRCh37: Chr17:18052131 GRCh38: Chr17:18148817	MYO15A	W2274L	Autosomal recessive nonsyndromic hearing loss 3, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133353136.	NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) GRCh37: Chr17:18052173-18052183 GRCh38: Chr17:18148859-18148869	MYO15A	D2289fs	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133056037.	NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His) GRCh37: Chr17:18043880 GRCh38: Chr17:18140566	MYO15A	R1754H	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Apr 13, 2021)	criteria provided, single submitter
Select item 132331338.	NM_016239.4(MYO15A):c.5001del (p.Gln1669fs) GRCh37: Chr17:18041552 GRCh38: Chr17:18138238	MYO15A	Q1669fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Mar 30, 2020)	criteria provided, single submitter
Select item 131995539.	NM_016239.4(MYO15A):c.5557C>G (p.His1853Asp) GRCh37: Chr17:18044992 GRCh38: Chr17:18141678	MYO15A	H1853D	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 131974140.	NM_016239.4(MYO15A):c.3340T>C (p.Phe1114Leu) GRCh37: Chr17:18025454 GRCh38: Chr17:18122140	MYO15A	F1114L	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 131502441.	NM_016239.4(MYO15A):c.530G>T (p.Gly177Val) GRCh37: Chr17:18022644 GRCh38: Chr17:18119330	MYO15A	G177V	not provided, Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Mar 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131262642.	NM_016239.4(MYO15A):c.3952G>A (p.Gly1318Ser) GRCh37: Chr17:18030399 GRCh38: Chr17:18127085	MYO15A	G1318S	not provided, Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131160143.	NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro) GRCh37: Chr17:18059598 GRCh38: Chr17:18156284	MYO15A	R2850P	Autosomal recessive nonsyndromic hearing loss 3, not provided	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130198344.	NM_016239.4(MYO15A):c.9868A>G (p.Met3290Val) GRCh37: Chr17:18069755 GRCh38: Chr17:18166441	MYO15A	M3290V	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130198245.	NM_016239.4(MYO15A):c.9787+1G>A GRCh37: Chr17:18067153 GRCh38: Chr17:18163839	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130198146.	NM_016239.4(MYO15A):c.9534C>A (p.Cys3178Ter) GRCh37: Chr17:18065915 GRCh38: Chr17:18162601	MYO15A	C3178*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130198047.	NM_016239.4(MYO15A):c.9532T>C (p.Cys3178Arg) GRCh37: Chr17:18065913 GRCh38: Chr17:18162599	MYO15A	C3178R	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130197948.	NM_016239.4(MYO15A):c.9401G>C (p.Arg3134Pro) GRCh37: Chr17:18064645 GRCh38: Chr17:18161331	MYO15A	R3134P	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130197849.	NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter) GRCh37: Chr17:18064644 GRCh38: Chr17:18161330	MYO15A	R3134*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Jun 30, 2020)	criteria provided, multiple submitters, no conflicts
Select item 130197750.	NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter) GRCh37: Chr17:18063303 GRCh38: Chr17:18159989	MYO15A	Q3120*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130197651.	NM_016239.4(MYO15A):c.1101del (p.Tyr368fs) GRCh37: Chr17:18023213 GRCh38: Chr17:18119899	MYO15A	Y368fs	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130197552.	NM_016239.4(MYO15A):c.900del (p.Pro301fs) GRCh37: Chr17:18023014 GRCh38: Chr17:18119700	MYO15A	P301fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130197453.	NM_016239.4(MYO15A):c.8976dup (p.Val2993fs) GRCh37: Chr17:18061844-18061845 GRCh38: Chr17:18158530-18158531	MYO15A	V2993fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130197354.	NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) GRCh37: Chr17:18061191 GRCh38: Chr17:18157877	MYO15A	Q2982*	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130197255.	NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser) GRCh37: Chr17:18061075 GRCh38: Chr17:18157761	MYO15A	F2943S	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130197156.	NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs) GRCh37: Chr17:18061073-18061074 GRCh38: Chr17:18157759-18157760	MYO15A	S2945fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130197057.	NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) GRCh37: Chr17:18061038 GRCh38: Chr17:18157724	MYO15A	W2931fs	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130196958.	NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del) GRCh37: Chr17:18060501-18060503 GRCh38: Chr17:18157187-18157189	MYO15A	V2917del	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130196859.	NM_016239.4(MYO15A):c.8713+3_8713+6del GRCh37: Chr17:18060380-18060383 GRCh38: Chr17:18157066-18157069	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130196760.	NM_016239.4(MYO15A):c.8583del (p.Phe2861fs) GRCh37: Chr17:18059632 GRCh38: Chr17:18156318	MYO15A	F2861fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130196661.	NM_016239.4(MYO15A):c.8459G>C (p.Ser2820Thr) GRCh37: Chr17:18058746 GRCh38: Chr17:18155432	MYO15A	S2820T	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130196562.	NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg) GRCh37: Chr17:18058745 GRCh38: Chr17:18155431	MYO15A	S2820R	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130196463.	NM_016239.4(MYO15A):c.8362C>T (p.Gln2788Ter) GRCh37: Chr17:18058649 GRCh38: Chr17:18155335	MYO15A	Q2788*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130196364.	NM_016239.4(MYO15A):c.8324G>T (p.Arg2775Leu) GRCh37: Chr17:18058523 GRCh38: Chr17:18155209	MYO15A	R2775L	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130196265.	NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His) GRCh37: Chr17:18058523 GRCh38: Chr17:18155209	MYO15A	R2775H	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130196166.	NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del) GRCh37: Chr17:18058482-18058505 GRCh38: Chr17:18155168-18155191	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130196067.	NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs) GRCh37: Chr17:18058439-18058440 GRCh38: Chr17:18155125-18155126	MYO15A	Q2749fs	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130195968.	NM_016239.4(MYO15A):c.8152del (p.Leu2718fs) GRCh37: Chr17:18057996 GRCh38: Chr17:18154682	MYO15A	L2718fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130195869.	NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter) GRCh37: Chr17:18057484-18057485 GRCh38: Chr17:18154170-18154171	MYO15A	D2711*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130195770.	NM_016239.4(MYO15A):c.10350+2T>G GRCh37: Chr17:18075606 GRCh38: Chr17:18172292	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130195671.	NM_016239.4(MYO15A):c.7771del (p.Arg2591fs) GRCh37: Chr17:18054824 GRCh38: Chr17:18151510	MYO15A	R2591fs	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130195572.	NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs) GRCh37: Chr17:18054752-18054753 GRCh38: Chr17:18151438-18151439	MYO15A	E2567fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130195473.	NM_016239.4(MYO15A):c.7523del (p.Pro2508fs) GRCh37: Chr17:18054469 GRCh38: Chr17:18151155	MYO15A	P2508fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130195374.	NM_016239.4(MYO15A):c.735C>G (p.Tyr245Ter) GRCh37: Chr17:18022849 GRCh38: Chr17:18119535	MYO15A	Y245*	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130195275.	NM_016239.4(MYO15A):c.6956+9C>G GRCh37: Chr17:18052275 GRCh38: Chr17:18148961	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130195176.	NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn) GRCh37: Chr17:18052151 GRCh38: Chr17:18148837	MYO15A	D2281N	Autosomal recessive nonsyndromic hearing loss 3, not provided	Conflicting interpretations of pathogenicity (Apr 26, 2022)	criteria provided, conflicting interpretations
Select item 130195077.	NM_016239.4(MYO15A):c.6764+1G>T GRCh37: Chr17:18051883 GRCh38: Chr17:18148569	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130194978.	NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) GRCh37: Chr17:18051834 GRCh38: Chr17:18148520	MYO15A	H2239P	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130194879.	NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del) GRCh37: Chr17:18075545-18075559 GRCh38: Chr17:18172231-18172245	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130194780.	NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile) GRCh37: Chr17:18051449 GRCh38: Chr17:18148135	MYO15A	L2206I	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130194681.	NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) GRCh37: Chr17:18051444 GRCh38: Chr17:18148130	MYO15A	R2204H	not provided, Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130194582.	NM_016239.4(MYO15A):c.6510-1G>T GRCh37: Chr17:18051342 GRCh38: Chr17:18148028	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130194483.	NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) GRCh37: Chr17:18049354 GRCh38: Chr17:18146040	MYO15A	W2148R	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130194384.	NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) GRCh37: Chr17:18049309 GRCh38: Chr17:18145995	MYO15A	N2133D	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130194285.	NM_016239.4(MYO15A):c.6338T>A (p.Ile2113Asn) GRCh37: Chr17:18049250 GRCh38: Chr17:18145936	MYO15A	I2113N	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130194186.	NM_016239.4(MYO15A):c.596C>G (p.Ser199Ter) GRCh37: Chr17:18022710 GRCh38: Chr17:18119396	MYO15A	S199*	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130194087.	NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del) GRCh37: Chr17:18075505-18075507 GRCh38: Chr17:18172191-18172193	MYO15A	F3420del	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130193988.	NM_016239.4(MYO15A):c.5809C>G (p.Arg1937Gly) GRCh37: Chr17:18045552 GRCh38: Chr17:18142238	MYO15A	R1937G	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130193889.	NM_016239.4(MYO15A):c.5722_5725del (p.Thr1908fs) GRCh37: Chr17:18045462-18045465 GRCh38: Chr17:18142148-18142151	MYO15A	T1908fs	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130193790.	NM_016239.4(MYO15A):c.5507T>C (p.Leu1836Pro) GRCh37: Chr17:18044433 GRCh38: Chr17:18141119	MYO15A	L1836P	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130193691.	NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) GRCh37: Chr17:18044430 GRCh38: Chr17:18141116	MYO15A	R1835L	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130193592.	NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly) GRCh37: Chr17:18044102 GRCh38: Chr17:18140788	MYO15A	C1788G	Autosomal recessive nonsyndromic hearing loss 3	Likely pathogenic	criteria provided, single submitter
Select item 130193493.	NM_016239.4(MYO15A):c.5360G>A (p.Arg1787Lys) GRCh37: Chr17:18043979 GRCh38: Chr17:18140665	MYO15A	R1787K	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130193394.	NM_016239.4(MYO15A):c.5134-1G>A GRCh37: Chr17:18042847 GRCh38: Chr17:18139533	MYO15A		Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter
Select item 130193295.	NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) GRCh37: Chr17:18042153 GRCh38: Chr17:18138839	MYO15A	C1679Y	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130193196.	NM_016239.4(MYO15A):c.4817A>G (p.Asn1606Ser) GRCh37: Chr17:18040935 GRCh38: Chr17:18137621	MYO15A	N1606S	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130193097.	NM_016239.4(MYO15A):c.4784T>C (p.Leu1595Pro) GRCh37: Chr17:18040902 GRCh38: Chr17:18137588	MYO15A	L1595P	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130192998.	NM_016239.4(MYO15A):c.4676T>C (p.Leu1559Ser) GRCh37: Chr17:18039897 GRCh38: Chr17:18136583	MYO15A	L1559S	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 130192899.	NM_016239.4(MYO15A):c.4567C>A (p.Leu1523Met) GRCh37: Chr17:18039109 GRCh38: Chr17:18135795	MYO15A	L1523M	Autosomal recessive nonsyndromic hearing loss 3	Uncertain significance	criteria provided, single submitter
Select item 1301927100.	NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro) GRCh37: Chr17:18036659 GRCh38: Chr17:18133345	MYO15A	S1481P	Autosomal recessive nonsyndromic hearing loss 3	Pathogenic	criteria provided, single submitter

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