ClinVar for MedGen (Select 419894) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456281.	NM_004999.4(MYO6):c.188-1G>T GRCh37: Chr6:76538256 GRCh38: Chr6:75828539	MYO6		Autosomal dominant nonsyndromic hearing loss 22	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 17100112.	NM_004999.4(MYO6):c.3331G>A (p.Val1111Met) GRCh37: Chr6:76618263 GRCh38: Chr6:75908546	MYO6	V1083M, V1088M, V1107M, V1111M, V1120M	Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 17095193.	NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter) GRCh37: Chr6:76595745-76595746 GRCh38: Chr6:75886028-75886029	MYO6	A811, A816	Autosomal dominant nonsyndromic hearing loss 22	Likely pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 17075434.	NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer) GRCh37: Chr6:76596692-76596702 GRCh38: Chr6:75886975-75886985	MYO6		Autosomal dominant nonsyndromic hearing loss 22	Likely pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 16780165.	NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu) GRCh37: Chr6:76572373 GRCh38: Chr6:75862656	MYO6	P531L, P536L	not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13424236.	NM_004999.4(MYO6):c.917T>C (p.Met306Thr) GRCh37: Chr6:76558087 GRCh38: Chr6:75848370	MYO6	M301T, M306T	Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Mar 26, 2021)	criteria provided, single submitter
Select item 11810717.	NM_004999.4(MYO6):c.817-21G>A GRCh37: Chr6:76554593 GRCh38: Chr6:75844876	MYO6		not provided, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10649488.	NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser) GRCh37: Chr6:76582979 GRCh38: Chr6:75873262	MYO6	F675S, F680S	Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Hearing impairment	Uncertain significance (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9780249.	NM_004999.4(MYO6):c.2078-2A>G GRCh37: Chr6:76589535 GRCh38: Chr6:75879818	MYO6		not provided	Likely pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 91751610.	NM_004999.4(MYO6):c.1452dup (p.Asn485Ter) GRCh37: Chr6:76568683-76568684 GRCh38: Chr6:75858966-75858967	MYO6	N480, N485	Autosomal dominant nonsyndromic hearing loss 22	Pathogenic (Jul 6, 2019)	no assertion criteria provided
Select item 91225511.	NM_004999.4(MYO6):c.*4287C>T GRCh37: Chr6:76629016 GRCh38: Chr6:75919299	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91218912.	NM_004999.4(MYO6):c.*3890G>A GRCh37: Chr6:76628619 GRCh38: Chr6:75918902	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91218813.	NM_004999.4(MYO6):c.*3846G>A GRCh37: Chr6:76628575 GRCh38: Chr6:75918858	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91212214.	NM_004999.4(MYO6):c.*3364A>G GRCh37: Chr6:76628093 GRCh38: Chr6:75918376	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91212115.	NM_004999.4(MYO6):c.*3297G>C GRCh37: Chr6:76628026 GRCh38: Chr6:75918309	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91206116.	NM_004999.4(MYO6):c.*2688A>G GRCh37: Chr6:76627417 GRCh38: Chr6:75917700	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91206017.	NM_004999.4(MYO6):c.*2572A>C GRCh37: Chr6:76627301 GRCh38: Chr6:75917584	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91195918.	NM_004999.4(MYO6):c.*860G>T GRCh37: Chr6:76625589 GRCh38: Chr6:75915872	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91195819.	NM_004999.4(MYO6):c.*692C>A GRCh37: Chr6:76625421 GRCh38: Chr6:75915704	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91190820.	NM_004999.4(MYO6):c.*34T>G GRCh37: Chr6:76624763 GRCh38: Chr6:75915046	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91190721.	NM_004999.4(MYO6):c.3755T>A (p.Ile1252Asn) GRCh37: Chr6:76624626 GRCh38: Chr6:75914909	MYO6	I1224N, I1220N, I1239N, I1229N, I1252N, I1261N	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91184522.	NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln) GRCh37: Chr6:76602329 GRCh38: Chr6:75892612	MYO6	R1005Q, R1010Q	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91184423.	NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) GRCh37: Chr6:76602272 GRCh38: Chr6:75892555	MYO6	R986L, R991L	not provided, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Apr 13, 2022)	criteria provided, conflicting interpretations
Select item 91180024.	NM_004999.4(MYO6):c.2030G>T (p.Ser677Ile) GRCh37: Chr6:76582970 GRCh38: Chr6:75873253	MYO6	S672I, S677I	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91179925.	NM_004999.4(MYO6):c.1692G>C (p.Lys564Asn) GRCh37: Chr6:76576260 GRCh38: Chr6:75866543	MYO6	K559N, K564N	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91174226.	NM_004999.4(MYO6):c.966G>A (p.Thr322=) GRCh37: Chr6:76558136 GRCh38: Chr6:75848419	MYO6		not provided, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 91174127.	NM_004999.4(MYO6):c.908C>T (p.Ala303Val) GRCh37: Chr6:76558078 GRCh38: Chr6:75848361	MYO6	A303V, A298V	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91174028.	NM_004999.4(MYO6):c.798T>G (p.Ser266Arg) GRCh37: Chr6:76551077 GRCh38: Chr6:75841360	MYO6	S261R, S266R	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91167129.	NM_004999.4(MYO6):c.26C>T (p.Ala9Val) GRCh37: Chr6:76527290 GRCh38: Chr6:75817573	MYO6	A9V	not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Uncertain significance (May 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 91167030.	NM_004999.4(MYO6):c.-19C>A GRCh37: Chr6:76527246 GRCh38: Chr6:75817529	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 91102031.	NM_004999.4(MYO6):c.*4196T>C GRCh37: Chr6:76628925 GRCh38: Chr6:75919208	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91096232.	NM_004999.4(MYO6):c.*3829T>C GRCh37: Chr6:76628558 GRCh38: Chr6:75918841	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91089533.	NM_004999.4(MYO6):c.*3288T>C GRCh37: Chr6:76628017 GRCh38: Chr6:75918300	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 91089434.	NM_004999.4(MYO6):c.*3064A>G GRCh37: Chr6:76627793 GRCh38: Chr6:75918076	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91089335.	NM_004999.4(MYO6):c.*3039A>G GRCh37: Chr6:76627768 GRCh38: Chr6:75918051	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 91084536.	NM_004999.4(MYO6):c.*2410T>C GRCh37: Chr6:76627139 GRCh38: Chr6:75917422	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91084437.	NM_004999.4(MYO6):c.*2276A>G GRCh37: Chr6:76627005 GRCh38: Chr6:75917288	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91079238.	NM_004999.4(MYO6):c.*1335G>A GRCh37: Chr6:76626064 GRCh38: Chr6:75916347	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91074039.	NM_004999.4(MYO6):c.*429T>C GRCh37: Chr6:76625158 GRCh38: Chr6:75915441	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91073940.	NM_004999.4(MYO6):c.*401A>G GRCh37: Chr6:76625130 GRCh38: Chr6:75915413	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91067641.	NM_004999.4(MYO6):c.3659-10A>G GRCh37: Chr6:76624520 GRCh38: Chr6:75914803	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91067542.	NM_004999.4(MYO6):c.3597A>G (p.Gly1199=) GRCh37: Chr6:76623937 GRCh38: Chr6:75914220	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91012943.	NM_004999.4(MYO6):c.*4056G>A GRCh37: Chr6:76628785 GRCh38: Chr6:75919068	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91012844.	NM_004999.4(MYO6):c.*4032G>A GRCh37: Chr6:76628761 GRCh38: Chr6:75919044	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91012745.	NM_004999.4(MYO6):c.*4030G>A GRCh37: Chr6:76628759 GRCh38: Chr6:75919042	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91006546.	NM_004999.4(MYO6):c.*3824A>C GRCh37: Chr6:76628553 GRCh38: Chr6:75918836	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91006447.	NM_004999.4(MYO6):c.*3660C>T GRCh37: Chr6:76628389 GRCh38: Chr6:75918672	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91006348.	NM_004999.4(MYO6):c.*3549C>T GRCh37: Chr6:76628278 GRCh38: Chr6:75918561	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91000549.	NM_004999.4(MYO6):c.*3032C>T GRCh37: Chr6:76627761 GRCh38: Chr6:75918044	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91000450.	NM_004999.4(MYO6):c.*2976C>T GRCh37: Chr6:76627705 GRCh38: Chr6:75917988	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90994351.	NM_004999.4(MYO6):c.*2146A>C GRCh37: Chr6:76626875 GRCh38: Chr6:75917158	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90994252.	NM_004999.4(MYO6):c.*1925A>G GRCh37: Chr6:76626654 GRCh38: Chr6:75916937	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90988953.	NM_004999.4(MYO6):c.*1324A>G GRCh37: Chr6:76626053 GRCh38: Chr6:75916336	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90988854.	NM_004999.4(MYO6):c.*1287T>A GRCh37: Chr6:76626016 GRCh38: Chr6:75916299	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 90984155.	NM_004999.4(MYO6):c.*305T>C GRCh37: Chr6:76625034 GRCh38: Chr6:75915317	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90984056.	NM_004999.4(MYO6):c.*303A>G GRCh37: Chr6:76625032 GRCh38: Chr6:75915315	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90976857.	NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn) GRCh37: Chr6:76623878 GRCh38: Chr6:75914161	MYO6	D1189N, D1180N, D1152N, D1167N, D1148N, D1157N	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90976758.	NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) GRCh37: Chr6:76623855 GRCh38: Chr6:75914138	MYO6	R1140H, R1149H, R1172H, R1181H, R1159H, R1144H	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90976659.	NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) GRCh37: Chr6:76623823 GRCh38: Chr6:75914106	MYO6		not provided, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 90976560.	NM_004999.4(MYO6):c.3439+13G>T GRCh37: Chr6:76621428 GRCh38: Chr6:75911711	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90969961.	NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr) GRCh37: Chr6:76599774 GRCh38: Chr6:75890057	MYO6	S887T, S882T	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90957862.	NM_004999.4(MYO6):c.553+10A>G GRCh37: Chr6:76545683 GRCh38: Chr6:75835966	MYO6		not provided, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 90957763.	NM_004999.4(MYO6):c.438T>C (p.Ser146=) GRCh37: Chr6:76542605 GRCh38: Chr6:75832888	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90909064.	NM_004999.4(MYO6):c.*1889A>G GRCh37: Chr6:76626618 GRCh38: Chr6:75916901	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90902865.	NM_004999.4(MYO6):c.*1011T>A GRCh37: Chr6:76625740 GRCh38: Chr6:75916023	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90896866.	NM_004999.4(MYO6):c.*301G>A GRCh37: Chr6:76625030 GRCh38: Chr6:75915313	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90896767.	NM_004999.4(MYO6):c.*263T>C GRCh37: Chr6:76624992 GRCh38: Chr6:75915275	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90896668.	NM_004999.4(MYO6):c.*186A>G GRCh37: Chr6:76624915 GRCh38: Chr6:75915198	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 90884569.	NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg) GRCh37: Chr6:76595766 GRCh38: Chr6:75886049	MYO6	Q816R, Q821R	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90884470.	NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg) GRCh37: Chr6:76591478 GRCh38: Chr6:75881761	MYO6	W782R, W787R	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90878471.	NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) GRCh37: Chr6:76558219 GRCh38: Chr6:75848502	MYO6	I345T, I350T	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, not provided	Uncertain significance (Jul 23, 2019)	criteria provided, multiple submitters, no conflicts
Select item 90878372.	NM_004999.4(MYO6):c.1029C>T (p.Gly343=) GRCh37: Chr6:76558199 GRCh38: Chr6:75848482	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Aug 17, 2017)	criteria provided, single submitter
Select item 90872273.	NM_004999.4(MYO6):c.406C>A (p.Arg136=) GRCh37: Chr6:76542573 GRCh38: Chr6:75832856	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90872174.	NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) GRCh37: Chr6:76538258 GRCh38: Chr6:75828541	MYO6	C63W	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90825375.	NM_004999.4(MYO6):c.*4506T>C GRCh37: Chr6:76629235 GRCh38: Chr6:75919518	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90825276.	NM_004999.4(MYO6):c.*4446A>G GRCh37: Chr6:76629175 GRCh38: Chr6:75919458	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 90818277.	NM_004999.4(MYO6):c.*3926T>C GRCh37: Chr6:76628655 GRCh38: Chr6:75918938	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90818178.	NM_004999.4(MYO6):c.*3914T>C GRCh37: Chr6:76628643 GRCh38: Chr6:75918926	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 90811379.	NM_004999.4(MYO6):c.*3475G>A GRCh37: Chr6:76628204 GRCh38: Chr6:75918487	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90805380.	NM_004999.4(MYO6):c.*2873T>C GRCh37: Chr6:76627602 GRCh38: Chr6:75917885	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90805281.	NM_004999.4(MYO6):c.*2838T>G GRCh37: Chr6:76627567 GRCh38: Chr6:75917850	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 81382682.	NM_004999.4(MYO6):c.3765del (p.Cys1256fs) GRCh37: Chr6:76624636 GRCh38: Chr6:75914919	MYO6	C1243fs, C1228fs, C1233fs, C1265fs, C1224fs, C1256fs	Autosomal dominant nonsyndromic hearing loss 22	Pathogenic (May 7, 2018)	criteria provided, single submitter
Select item 80076883.	NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) GRCh37: Chr6:76623977 GRCh38: Chr6:75914260	MYO6	P1181S, P1200S, P1213S, P1222S, P1185S, P1190S	Inborn genetic diseases	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 54469384.	NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter) GRCh37: Chr6:76599832 GRCh38: Chr6:75890115	MYO6	S906, S901	Autosomal dominant nonsyndromic hearing loss 22	Pathogenic (Oct 17, 2017)	criteria provided, single submitter
Select item 50498885.	NM_004999.4(MYO6):c.2837G>A (p.Arg946His) GRCh37: Chr6:76599952 GRCh38: Chr6:75890235	MYO6	R946H, R941H	not specified, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22, not provided	Uncertain significance (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40226386.	NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) GRCh37: Chr6:76554694 GRCh38: Chr6:75844977	MYO6	E299D, E294D	Autosomal recessive nonsyndromic hearing loss 37	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 39750887.	NM_004999.4(MYO6):c.548T>A (p.Val183Asp) GRCh37: Chr6:76545668 GRCh38: Chr6:75835951	MYO6	V183D	Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jul 12, 2016)	criteria provided, single submitter
Select item 35806388.	NM_004999.4(MYO6):c.*4481T>C GRCh37: Chr6:76629210 GRCh38: Chr6:75919493	MYO6		Autosomal dominant nonsyndromic hearing loss 22, not provided, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (May 18, 2021)	criteria provided, conflicting interpretations
Select item 35806289.	NM_004999.4(MYO6):c.*4464C>T GRCh37: Chr6:76629193 GRCh38: Chr6:75919476	MYO6		Autosomal dominant nonsyndromic hearing loss 22, not provided, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (May 18, 2021)	criteria provided, conflicting interpretations
Select item 35806190.	NM_004999.4(MYO6):c.*4428A>G GRCh37: Chr6:76629157 GRCh38: Chr6:75919440	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 35805991.	NM_004999.4(MYO6):c.*4288G>A GRCh37: Chr6:76629017 GRCh38: Chr6:75919300	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35805892.	NM_004999.4(MYO6):c.*4283A>T GRCh37: Chr6:76629012 GRCh38: Chr6:75919295	MYO6		Autosomal dominant nonsyndromic hearing loss 22, not provided, Autosomal recessive nonsyndromic hearing loss 37	Benign/Likely benign (May 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35805793.	NM_004999.4(MYO6):c.*4283A>G GRCh37: Chr6:76629012 GRCh38: Chr6:75919295	MYO6		not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35805694.	NM_004999.4(MYO6):c.*4114T>A GRCh37: Chr6:76628843 GRCh38: Chr6:75919126	MYO6		not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35805495.	NM_004999.4(MYO6):c.*4095G>A GRCh37: Chr6:76628824 GRCh38: Chr6:75919107	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35805396.	NM_004999.4(MYO6):c.*3973A>G GRCh37: Chr6:76628702 GRCh38: Chr6:75918985	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35805297.	NM_004999.4(MYO6):c.*3940T>C GRCh37: Chr6:76628669 GRCh38: Chr6:75918952	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35805198.	NM_004999.4(MYO6):c.*3879G>A GRCh37: Chr6:76628608 GRCh38: Chr6:75918891	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35805099.	NM_004999.4(MYO6):c.*3874G>A GRCh37: Chr6:76628603 GRCh38: Chr6:75918886	MYO6		Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 358049100.	NM_004999.4(MYO6):c.*3835C>T GRCh37: Chr6:76628564 GRCh38: Chr6:75918847	MYO6		not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts

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