ClinVar for MedGen (Select 325373) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063738	NM_016239.4(MYO15A):c.439G>T (p.Glu147Ter)	MYO15A (E147*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 3024459	NM_016239.4(MYO15A):c.8305T>A (p.Trp2769Arg)	MYO15A (W2769R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 3024076	NM_016239.4(MYO15A):c.8083A>C (p.Lys2695Gln)	MYO15A (K2695Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 2692312	NM_016239.4(MYO15A):c.6668C>G (p.Ala2223Gly)	MYO15A (A2223G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 2683914	NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)	MYO15A (C2236*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2683913	NM_016239.4(MYO15A):c.343del (p.Arg115fs)	MYO15A (R115fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2627524	NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter)	MYO15A (Y3114*)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 2573586	NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)	LOC130060418, MYO15A (W3136C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 2572402	NM_016239.4(MYO15A):c.1657del (p.Arg553fs)	MYO15A (R553fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2504601	NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)	MYO15A (R2204L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2502899	NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter)	MYO15A (Y1962*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 2501664	NM_016239.4(MYO15A):c.4596+1G>A	MYO15A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2497968	NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)	MYO15A (G1358S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GConflicting classifications of pathogenicity
Select item 2473459	NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His)	MYO15A (R3503H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GUncertain significance
Select item 2445659	NM_016239.4(MYO15A):c.10351-15T>G	MYO15A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2445658	NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)	MYO15A (C3148Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 2445657	NM_016239.4(MYO15A):c.8831del (p.Pro2944fs)	MYO15A (P2944fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2445656	NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter)	MYO15A (S2200*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2445655	NM_016239.4(MYO15A):c.6194del (p.Met2065fs)	MYO15A (M2065fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 2444220	NM_016239.4(MYO15A):c.9518-2A>G	MYO15A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic
Select item 2442240	NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg)	MYO15A (G2938R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 2433960	NM_016239.4(MYO15A):c.2766G>A (p.Val922=)	MYO15A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GConflicting classifications of pathogenicity
Select item 2430256	NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)	MYO15A (E2439fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 2231675	NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys)	MYO15A (E3336K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +3 more	GConflicting classifications of pathogenicity
Select item 2169588	NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His)	MYO15A (R2924H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1878598	NM_016239.4(MYO15A):c.8789-2A>G	MYO15A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1802205	NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)	MYO15A (D3123E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GConflicting classifications of pathogenicity
Select item 1799547	NM_016239.4(MYO15A):c.8910del (p.Val2971fs)	MYO15A (V2971fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1708470	NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter)	MYO15A (Y3475*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1705583	NM_016239.4(MYO15A):c.8601+2T>G	MYO15A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1704290	NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter)	MYO15A (W1158*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1695373	NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)	MYO15A (W1192*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1695345	NM_016239.4(MYO15A):c.[5192T>C;823G>C]	MYO15A (G275R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1691143	NM_016239.4(MYO15A):c.8968-1G>T	MYO15A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1687546	NM_016239.4(MYO15A):c.10475dup (p.Leu3493fs)	MYO15A (L3493fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1687525	NM_016239.4(MYO15A):c.581G>A (p.Arg194His)	MYO15A (R194H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1687517	NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs)	MYO15A (P402fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1687502	NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg)	MYO15A (G3173R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1687480	NM_016239.4(MYO15A):c.3928T>G (p.Cys1310Gly)	MYO15A (C1310G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1687328	NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter)	MYO15A (E620*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1675660	NM_016239.4(MYO15A):c.773A>C (p.Glu258Ala)	MYO15A (E258A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1526222	NM_016239.4(MYO15A):c.4228C>T (p.His1410Tyr)	MYO15A (H1410Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1482079	NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met)	MYO15A (V1825M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1476534	NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser)	MYO15A (R2694S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GConflicting classifications of pathogenicity
Select item 1462859	NM_016239.4(MYO15A):c.4038+3A>G	MYO15A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1428227	NM_016239.4(MYO15A):c.4779+5G>A	MYO15A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1351121	NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu)	MYO15A (W2274L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333531	NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs)	MYO15A (D2289fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1330560	NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His)	MYO15A (R1754H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1323313	NM_016239.4(MYO15A):c.5001del (p.Gln1669fs)	MYO15A (Q1669fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1319955	NM_016239.4(MYO15A):c.5557C>G (p.His1853Asp)	MYO15A (H1853D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1315024	NM_016239.4(MYO15A):c.530G>T (p.Gly177Val)	MYO15A (G177V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1312626	NM_016239.4(MYO15A):c.3952G>A (p.Gly1318Ser)	MYO15A (G1318S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311601	NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro)	MYO15A (R2850P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GUncertain significance
Select item 1301983	NM_016239.4(MYO15A):c.9868A>G (p.Met3290Val)	MYO15A (M3290V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301982	NM_016239.4(MYO15A):c.9787+1G>A	MYO15A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301981	NM_016239.4(MYO15A):c.9534C>A (p.Cys3178Ter)	MYO15A (C3178*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301980	NM_016239.4(MYO15A):c.9532T>C (p.Cys3178Arg)	MYO15A (C3178R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301979	NM_016239.4(MYO15A):c.9401G>C (p.Arg3134Pro)	LOC130060418, MYO15A (R3134P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301978	NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter)	LOC130060418, MYO15A (R3134*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic
Select item 1301977	NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter)	MYO15A (Q3120*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301976	NM_016239.4(MYO15A):c.1101del (p.Tyr368fs)	MYO15A (Y368fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301975	NM_016239.4(MYO15A):c.900del (p.Pro301fs)	MYO15A (P301fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301974	NM_016239.4(MYO15A):c.8976dup (p.Val2993fs)	MYO15A (V2993fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301973	NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter)	MYO15A (Q2982*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 1301972	NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser)	MYO15A (F2943S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301971	NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs)	MYO15A (S2945fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301970	NM_016239.4(MYO15A):c.8791del (p.Trp2931fs)	MYO15A (W2931fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 1301969	NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del)	MYO15A (V2917del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301968	NM_016239.4(MYO15A):c.8713+3_8713+6del	MYO15A	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301967	NM_016239.4(MYO15A):c.8583del (p.Phe2861fs)	MYO15A (F2861fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301966	NM_016239.4(MYO15A):c.8459G>C (p.Ser2820Thr)	MYO15A (S2820T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301965	NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg)	MYO15A (S2820R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301964	NM_016239.4(MYO15A):c.8362C>T (p.Gln2788Ter)	MYO15A (Q2788*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301963	NM_016239.4(MYO15A):c.8324G>T (p.Arg2775Leu)	MYO15A (R2775L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301962	NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His)	MYO15A (R2775H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 1301961	NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del)	MYO15A	Deletion (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301960	NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs)	MYO15A (Q2749fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301959	NM_016239.4(MYO15A):c.8152del (p.Leu2718fs)	MYO15A (L2718fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301958	NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter)	MYO15A (D2711*)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301957	NM_016239.4(MYO15A):c.10350+2T>G	MYO15A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301956	NM_016239.4(MYO15A):c.7771del (p.Arg2591fs)	MYO15A (R2591fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301955	NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs)	MYO15A (E2567fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301954	NM_016239.4(MYO15A):c.7523del (p.Pro2508fs)	MYO15A (P2508fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301953	NM_016239.4(MYO15A):c.735C>G (p.Tyr245Ter)	MYO15A (Y245*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301952	NM_016239.4(MYO15A):c.6956+9C>G	MYO15A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic
Select item 1301951	NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn)	MYO15A (D2281N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301950	NM_016239.4(MYO15A):c.6764+1G>T	MYO15A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301949	NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro)	MYO15A (H2239P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301948	NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del)	MYO15A	Deletion (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301947	NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile)	MYO15A (L2206I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301946	NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His)	MYO15A (R2204H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 1301945	NM_016239.4(MYO15A):c.6510-1G>T	MYO15A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 1301944	NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg)	MYO15A (W2148R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 1301943	NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp)	MYO15A (N2133D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301942	NM_016239.4(MYO15A):c.6338T>A (p.Ile2113Asn)	MYO15A (I2113N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301941	NM_016239.4(MYO15A):c.596C>G (p.Ser199Ter)	MYO15A (S199*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301940	NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del)	MYO15A (F3420del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic
Select item 1301939	NM_016239.4(MYO15A):c.5809C>G (p.Arg1937Gly)	MYO15A (R1937G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1301938	NM_016239.4(MYO15A):c.5722_5725del (p.Thr1908fs)	MYO15A (T1908fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic

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