ClinVar for MedGen (Select 375076) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429058	NM_004999.4(MYO6):c.2416+2T>C	MYO6	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 37	GLikely pathogenic
Select item 1687620	NM_004999.4(MYO6):c.2375G>A (p.Arg792His)	MYO6 (R787H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37	GUncertain significance
Select item 1687183	NM_004999.4(MYO6):c.2309T>C (p.Met770Thr)	MYO6 (M765T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37	GUncertain significance
Select item 1678016	NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu)	MYO6 (P531L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GUncertain significance
Select item 1334126	NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln)	MYO6 (L921Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37	GLikely pathogenic
Select item 1181071	NM_004999.4(MYO6):c.817-21G>A	MYO6	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GBenign
Select item 1064948	NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser)	MYO6 (F675S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 930693	NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu)	MYO6 (Q683L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37	GUncertain significance
Select item 912255	NM_004999.4(MYO6):c.*4287C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 912189	NM_004999.4(MYO6):c.*3890G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 912188	NM_004999.4(MYO6):c.*3846G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 912122	NM_004999.4(MYO6):c.*3364A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 912121	NM_004999.4(MYO6):c.*3297G>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 912061	NM_004999.4(MYO6):c.*2688A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 912060	NM_004999.4(MYO6):c.*2572A>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911959	NM_004999.4(MYO6):c.*860G>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911958	NM_004999.4(MYO6):c.*692C>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911908	NM_004999.4(MYO6):c.*34T>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911907	NM_004999.4(MYO6):c.3755T>A (p.Ile1252Asn)	MYO6 (I1224N +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911845	NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln)	MYO6 (R1005Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911844	NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu)	MYO6 (R986L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +3 more	GConflicting classifications of pathogenicity
Select item 911800	NM_004999.4(MYO6):c.2030G>T (p.Ser677Ile)	MYO6 (S672I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911799	NM_004999.4(MYO6):c.1692G>C (p.Lys564Asn)	MYO6 (K559N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911742	NM_004999.4(MYO6):c.966G>A (p.Thr322=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +2 more	GConflicting classifications of pathogenicity
Select item 911741	NM_004999.4(MYO6):c.908C>T (p.Ala303Val)	MYO6 (A303V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911740	NM_004999.4(MYO6):c.798T>G (p.Ser266Arg)	MYO6 (S261R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911671	NM_004999.4(MYO6):c.26C>T (p.Ala9Val)	MYO6 (A9V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 911670	NM_004999.4(MYO6):c.-19C>A	MYO6	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 911020	NM_004999.4(MYO6):c.*4196T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910962	NM_004999.4(MYO6):c.*3829T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910895	NM_004999.4(MYO6):c.*3288T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 910894	NM_004999.4(MYO6):c.*3064A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910893	NM_004999.4(MYO6):c.*3039A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 910845	NM_004999.4(MYO6):c.*2410T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910844	NM_004999.4(MYO6):c.*2276A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910792	NM_004999.4(MYO6):c.*1335G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910740	NM_004999.4(MYO6):c.*429T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910739	NM_004999.4(MYO6):c.*401A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910676	NM_004999.4(MYO6):c.3659-10A>G	MYO6	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 910675	NM_004999.4(MYO6):c.3597A>G (p.Gly1199=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910129	NM_004999.4(MYO6):c.*4056G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910128	NM_004999.4(MYO6):c.*4032G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910127	NM_004999.4(MYO6):c.*4030G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910065	NM_004999.4(MYO6):c.*3824A>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910064	NM_004999.4(MYO6):c.*3660C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910063	NM_004999.4(MYO6):c.*3549C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910005	NM_004999.4(MYO6):c.*3032C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 910004	NM_004999.4(MYO6):c.*2976C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909943	NM_004999.4(MYO6):c.*2146A>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909942	NM_004999.4(MYO6):c.*1925A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909889	NM_004999.4(MYO6):c.*1324A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909888	NM_004999.4(MYO6):c.*1287T>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 909841	NM_004999.4(MYO6):c.*305T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909840	NM_004999.4(MYO6):c.*303A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 909768	NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn)	MYO6 (D1189N +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909767	NM_004999.4(MYO6):c.3515G>A (p.Arg1172His)	MYO6 (R1140H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 909766	NM_004999.4(MYO6):c.3483G>A (p.Glu1161=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GConflicting classifications of pathogenicity
Select item 909765	NM_004999.4(MYO6):c.3439+13G>T	MYO6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909699	NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr)	MYO6 (S887T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909578	NM_004999.4(MYO6):c.553+10A>G	MYO6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 37 +2 more	GConflicting classifications of pathogenicity
Select item 909577	NM_004999.4(MYO6):c.438T>C (p.Ser146=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 909090	NM_004999.4(MYO6):c.*1889A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 909028	NM_004999.4(MYO6):c.*1011T>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 908968	NM_004999.4(MYO6):c.*301G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 908967	NM_004999.4(MYO6):c.*263T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908966	NM_004999.4(MYO6):c.*186A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 908845	NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg)	MYO6 (Q816R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908844	NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg)	MYO6 (W782R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908784	NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr)	MYO6 (I345T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +2 more	GUncertain significance
Select item 908783	NM_004999.4(MYO6):c.1029C>T (p.Gly343=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908722	NM_004999.4(MYO6):c.406C>A (p.Arg136=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908721	NM_004999.4(MYO6):c.189T>G (p.Cys63Trp)	MYO6 (C63W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 908253	NM_004999.4(MYO6):c.*4506T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908252	NM_004999.4(MYO6):c.*4446A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 908182	NM_004999.4(MYO6):c.*3926T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908181	NM_004999.4(MYO6):c.*3914T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 908113	NM_004999.4(MYO6):c.*3475G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908053	NM_004999.4(MYO6):c.*2873T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 908052	NM_004999.4(MYO6):c.*2838T>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 504988	NM_004999.4(MYO6):c.2837G>A (p.Arg946His)	MYO6 (R946H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 402263	NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)	MYO6 (E299D +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37	GLikely pathogenic
Select item 358063	NM_004999.4(MYO6):c.*4481T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358062	NM_004999.4(MYO6):c.*4464C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358061	NM_004999.4(MYO6):c.*4428A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GLikely benign
Select item 358059	NM_004999.4(MYO6):c.*4288G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 358058	NM_004999.4(MYO6):c.*4283A>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 358057	NM_004999.4(MYO6):c.*4283A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 358056	NM_004999.4(MYO6):c.*4114T>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 358054	NM_004999.4(MYO6):c.*4095G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 358053	NM_004999.4(MYO6):c.*3973A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 358052	NM_004999.4(MYO6):c.*3940T>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GBenign
Select item 358051	NM_004999.4(MYO6):c.*3879G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GConflicting classifications of pathogenicity
Select item 358050	NM_004999.4(MYO6):c.*3874G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GConflicting classifications of pathogenicity
Select item 358049	NM_004999.4(MYO6):c.*3835C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 358048	NM_004999.4(MYO6):c.*3834G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 37 +1 more	GUncertain significance
Select item 358047	NM_004999.4(MYO6):c.*3632T>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358046	NM_004999.4(MYO6):c.*3546A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 358045	NM_004999.4(MYO6):c.*3524A>G	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +1 more	GUncertain significance
Select item 358044	NM_004999.4(MYO6):c.*3509G>A	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 358042	NM_004999.4(MYO6):c.*3447A>C	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign

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