ClinVar for Gene (Select 51168) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373699	NM_016239.4(MYO15A):c.10409C>A (p.Thr3470Lys)	MYO15A (T3470K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373360	NM_016239.4(MYO15A):c.2425C>T (p.Pro809Ser)	MYO15A (P809S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373006	NM_016239.4(MYO15A):c.3601C>T (p.Arg1201Trp)	MYO15A (R1201W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372692	NM_016239.4(MYO15A):c.5899C>T (p.Arg1967Cys)	MYO15A (R1967C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372638	NM_016239.4(MYO15A):c.10478T>G (p.Leu3493Arg)	MYO15A (L3493R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372012	NM_016239.4(MYO15A):c.3788A>T (p.Asn1263Ile)	MYO15A (N1263I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372011	NM_016239.4(MYO15A):c.4312C>G (p.Leu1438Val)	MYO15A (L1438V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371972	NM_016239.4(MYO15A):c.5632C>T (p.Arg1878Cys)	MYO15A (R1878C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371188	NM_016239.4(MYO15A):c.4699C>T (p.Leu1567Phe)	MYO15A (L1567F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370612	NM_016239.4(MYO15A):c.9365C>T (p.Thr3122Ile)	MYO15A (T3122I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370292	NM_016239.4(MYO15A):c.5540del (p.Cys1847fs)	MYO15A (C1847fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 3369710	NM_016239.4(MYO15A):c.10324C>T (p.Leu3442Phe)	MYO15A (L3442F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368939	NM_016239.4(MYO15A):c.4370G>A (p.Arg1457Gln)	MYO15A (R1457Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368877	NM_016239.4(MYO15A):c.4143G>A (p.Gly1381=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3367513	NM_016239.4(MYO15A):c.6238G>A (p.Glu2080Lys)	MYO15A (E2080K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367512	NM_016239.4(MYO15A):c.3319C>T (p.Arg1107Cys)	MYO15A (R1107C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367496	NM_016239.4(MYO15A):c.3861T>A (p.Asn1287Lys)	MYO15A (N1287K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367393	NM_016239.4(MYO15A):c.3094C>T (p.Pro1032Ser)	MYO15A (P1032S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366817	NM_016239.4(MYO15A):c.3892G>A (p.Ala1298Thr)	MYO15A (A1298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366719	NM_016239.4(MYO15A):c.10136C>T (p.Ser3379Leu)	MYO15A (S3379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366391	NM_016239.4(MYO15A):c.7395+3G>A	MYO15A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3366272	NM_016239.4(MYO15A):c.3541C>T (p.Pro1181Ser)	MYO15A (P1181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364188	NM_016239.4(MYO15A):c.1442C>T (p.Pro481Leu)	MYO15A (P481L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364048	NM_016239.4(MYO15A):c.4372C>T (p.Leu1458Phe)	MYO15A (L1458F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363741	NM_016239.4(MYO15A):c.9743C>T (p.Pro3248Leu)	MYO15A (P3248L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363356	NM_016239.4(MYO15A):c.6091C>A (p.Pro2031Thr)	MYO15A (P2031T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362013	NM_016239.4(MYO15A):c.7028A>G (p.Lys2343Arg)	MYO15A (K2343R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361976	NM_016239.4(MYO15A):c.4753G>A (p.Ala1585Thr)	MYO15A (A1585T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361952	NM_016239.4(MYO15A):c.387A>C (p.Lys129Asn)	MYO15A (K129N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3360473	NM_016239.4(MYO15A):c.965A>G (p.Tyr322Cys)	MYO15A (Y322C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360155	NM_016239.4(MYO15A):c.9722C>T (p.Ala3241Val)	MYO15A (A3241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352440	NM_016239.4(MYO15A):c.718C>T (p.Arg240Cys)	MYO15A (R240C)	Single nucleotide variant (missense variant)	MYO15A-related disorder	GUncertain significance
Select item 3351111	NM_016239.4(MYO15A):c.2569C>T (p.Pro857Ser)	MYO15A (P857S)	Single nucleotide variant (missense variant)	MYO15A-related disorder	GUncertain significance
Select item 3346890	NM_016239.4(MYO15A):c.4610AGA[1] (p.Lys1538del)	MYO15A (K1538del)	Microsatellite (inframe_deletion)	MYO15A-related disorder	GUncertain significance
Select item 3342449	NM_016239.4(MYO15A):c.6314G>A (p.Arg2105Gln)	MYO15A (R2105Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341328	NM_016239.4(MYO15A):c.1672G>C (p.Gly558Arg)	MYO15A (G558R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 3340947	NM_016239.4(MYO15A):c.8714-6C>A	MYO15A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338040	NM_016239.4(MYO15A):c.4660G>A (p.Ala1554Thr)	MYO15A (A1554T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 3337680	NM_016239.4(MYO15A):c.9642_9645del (p.Leu3215fs)	MYO15A (L3215fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3337369	NM_016239.4(MYO15A):c.10470del (p.Leu3491fs)	MYO15A (L3491fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337368	NM_016239.4(MYO15A):c.7909G>A (p.Val2637Met)	MYO15A (V2637M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337367	NM_016239.4(MYO15A):c.5047C>G (p.His1683Asp)	MYO15A (H1683D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337366	NM_016239.4(MYO15A):c.4612A>T (p.Lys1538Ter)	MYO15A (K1538*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3336607	NM_016239.4(MYO15A):c.[6580C>T];[7124_7127del]			Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 3336462	NM_016239.4(MYO15A):c.2629G>C (p.Glu877Gln)	MYO15A (E877Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336294	NM_016239.4(MYO15A):c.9221T>C (p.Met3074Thr)	MYO15A (M3074T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297695	NM_016239.4(MYO15A):c.8104G>A (p.Asp2702Asn)	MYO15A (D2702N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297694	NM_016239.4(MYO15A):c.7115A>T (p.Gln2372Leu)	MYO15A (Q2372L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297693	NM_016239.4(MYO15A):c.7817G>A (p.Arg2606Gln)	MYO15A (R2606Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297692	NM_016239.4(MYO15A):c.1184C>G (p.Pro395Arg)	MYO15A (P395R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297691	NM_016239.4(MYO15A):c.6119C>T (p.Thr2040Ile)	MYO15A (T2040I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297690	NM_016239.4(MYO15A):c.9677T>C (p.Ile3226Thr)	MYO15A (I3226T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297689	NM_016239.4(MYO15A):c.1394A>T (p.Lys465Met)	MYO15A (K465M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297688	NM_016239.4(MYO15A):c.3460T>C (p.Trp1154Arg)	MYO15A (W1154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297687	NM_016239.4(MYO15A):c.482A>G (p.Gln161Arg)	MYO15A (Q161R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297685	NM_016239.4(MYO15A):c.2591T>C (p.Leu864Pro)	MYO15A (L864P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297684	NM_016239.4(MYO15A):c.1570G>T (p.Ala524Ser)	MYO15A (A524S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297683	NM_016239.4(MYO15A):c.98C>T (p.Thr33Met)	MYO15A (T33M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297682	NM_016239.4(MYO15A):c.2127C>A (p.His709Gln)	MYO15A (H709Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297681	NM_016239.4(MYO15A):c.1931C>G (p.Pro644Arg)	MYO15A (P644R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297680	NM_016239.4(MYO15A):c.4417G>T (p.Asp1473Tyr)	MYO15A (D1473Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297679	NM_016239.4(MYO15A):c.9559C>T (p.Arg3187Cys)	MYO15A (R3187C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297678	NM_016239.4(MYO15A):c.5434G>A (p.Val1812Ile)	MYO15A (V1812I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297677	NM_016239.4(MYO15A):c.10085G>A (p.Arg3362Gln)	MYO15A (R3362Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297675	NM_016239.4(MYO15A):c.7819C>T (p.Pro2607Ser)	MYO15A (P2607S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297674	NM_016239.4(MYO15A):c.8389A>G (p.Ile2797Val)	MYO15A (I2797V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297673	NM_016239.4(MYO15A):c.3845G>A (p.Arg1282Gln)	MYO15A (R1282Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297672	NM_016239.4(MYO15A):c.568T>A (p.Phe190Ile)	MYO15A (F190I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297670	NM_016239.4(MYO15A):c.5161G>A (p.Asp1721Asn)	MYO15A (D1721N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297669	NM_016239.4(MYO15A):c.7243C>T (p.Arg2415Cys)	MYO15A (R2415C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257372	NM_016239.4(MYO15A):c.6102G>A (p.Gln2034=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3255376	NM_016239.4(MYO15A):c.1178_1179del (p.Tyr393fs)	MYO15A (Y393fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 3252935	NM_016239.4(MYO15A):c.7520C>T (p.Pro2507Leu)	MYO15A (P2507L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252846	NM_016239.4(MYO15A):c.5171G>T (p.Arg1724Leu)	MYO15A (R1724L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252824	NM_016239.4(MYO15A):c.10409C>T (p.Thr3470Met)	MYO15A (T3470M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251289	NM_016239.4(MYO15A):c.4889G>A (p.Arg1630His)	MYO15A (R1630H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243195	NC_000017.10:g.(?_18054799)_(18058245_?)del	MYO15A	Deletion	not provided	GPathogenic
Select item 3243194	NC_000017.10:g.(?_18074932)_(18077255_?)del	MYO15A	Deletion	not provided	GPathogenic
Select item 3243193	NC_000017.10:g.(?_18055140)_(18055518_?)del	MYO15A	Deletion	not provided	GPathogenic
Select item 3243192	NC_000017.10:g.(?_18049166)_(18061234_?)del	MYO15A	Deletion	not provided	GPathogenic
Select item 3236423	NM_016239.4(MYO15A):c.6830T>G (p.Leu2277Arg)	MYO15A (L2277R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 3236422	NM_016239.4(MYO15A):c.2336C>T (p.Ser779Leu)	MYO15A (S779L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 3161375	NM_016239.4(MYO15A):c.9997C>T (p.Arg3333Trp)	MYO15A (R3333W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161370	NM_016239.4(MYO15A):c.9917A>G (p.Asn3306Ser)	MYO15A (N3306S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161330	NM_016239.4(MYO15A):c.9380C>G (p.Ser3127Cys)	MYO15A (S3127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161299	NM_016239.4(MYO15A):c.8908G>A (p.Ala2970Thr)	MYO15A (A2970T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161296	NM_016239.4(MYO15A):c.8896G>C (p.Gly2966Arg)	MYO15A (G2966R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161282	NM_016239.4(MYO15A):c.8738G>A (p.Arg2913His)	MYO15A (R2913H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161219	NM_016239.4(MYO15A):c.7675G>T (p.Val2559Phe)	MYO15A (V2559F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161187	NM_016239.4(MYO15A):c.7253G>A (p.Gly2418Glu)	MYO15A (G2418E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161183	NM_016239.4(MYO15A):c.7247T>A (p.Met2416Lys)	MYO15A (M2416K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161151	NM_016239.4(MYO15A):c.6680G>A (p.Gly2227Asp)	MYO15A (G2227D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161137	NM_016239.4(MYO15A):c.6398A>G (p.Asn2133Ser)	MYO15A (N2133S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161134	NM_016239.4(MYO15A):c.6367C>A (p.Leu2123Met)	MYO15A (L2123M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161122	NM_016239.4(MYO15A):c.6185C>T (p.Ala2062Val)	MYO15A (A2062V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161117	NM_016239.4(MYO15A):c.5915G>A (p.Arg1972Lys)	MYO15A (R1972K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161070	NM_016239.4(MYO15A):c.5122G>A (p.Val1708Ile)	MYO15A (V1708I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161057	NM_016239.4(MYO15A):c.4975C>T (p.Arg1659Trp)	MYO15A (R1659W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161048	NM_016239.4(MYO15A):c.4607G>A (p.Arg1536Gln)	MYO15A (R1536Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161009	NM_016239.4(MYO15A):c.3751A>G (p.Ile1251Val)	MYO15A (I1251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 10