"GeneDx"[submitter] AND "MYO7A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1215568	NM_000260.4(MYO7A):c.-46-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 677340	NM_000260.4(MYO7A):c.19-34G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748880	NM_000260.4(MYO7A):c.19-9C>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 802700	NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)	MYO7A (G7R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 242393	NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)	MYO7A (V10A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 196240	NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)	MYO7A (D13E +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1139067	NM_000260.4(MYO7A):c.47_48inv (p.Leu16Ser)	MYO7A (L16S +1 more)	Inversion (missense variant)	not provided	GLikely benign
Select item 43258	NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)	MYO7A (L16S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GBenign
Select item 546183	NM_000260.4(MYO7A):c.54G>C (p.Gln18His)	MYO7A (Q18H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845789	NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)	MYO7A (D10N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1312914	NM_000260.4(MYO7A):c.64G>A (p.Val22Met)	MYO7A (V11M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1200213	NM_000260.4(MYO7A):c.64G>T (p.Val22Leu)	MYO7A (V11L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370681	NM_000260.4(MYO7A):c.82G>A (p.Val28Met)	MYO7A (V17M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43344	NM_000260.4(MYO7A):c.93C>T (p.Cys31=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GBenign/Likely benign
Select item 11859	NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)	MYO7A (C31* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1310771	NM_000260.4(MYO7A):c.119A>G (p.Asp40Gly)	MYO7A (D29G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234714	NM_000260.4(MYO7A):c.132+133C>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288169	NM_000260.4(MYO7A):c.132+336C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297766	NM_000260.4(MYO7A):c.133-182T>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261799	NM_000260.4(MYO7A):c.133-128C>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177474	NM_000260.4(MYO7A):c.133-88C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 178476	NM_000260.4(MYO7A):c.133-14C>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 43141	NM_000260.4(MYO7A):c.133-7C>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GConflicting classifications of pathogenicity
Select item 512044	NM_000260.4(MYO7A):c.133-6C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 555778	NM_000260.4(MYO7A):c.133-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic
Select item 3373725	NM_000260.4(MYO7A):c.175A>G (p.Met59Val)	MYO7A (M48V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43158	NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)	MYO7A (P61R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 306154	NM_000260.4(MYO7A):c.186G>A (p.Thr62=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 1304460	NM_000260.4(MYO7A):c.202G>A (p.Glu68Lys)	MYO7A (E57K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 553215	NM_000260.4(MYO7A):c.224dup (p.Asp75fs)	MYO7A (D64fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 934702	NM_000260.4(MYO7A):c.254T>C (p.Leu85Pro)	MYO7A (L74P +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3367692	NM_000260.4(MYO7A):c.262C>A (p.Arg88Ser)	MYO7A (R77S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303902	NM_000260.4(MYO7A):c.262C>T (p.Arg88Cys)	MYO7A (R77C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368801	NM_000260.4(MYO7A):c.272A>C (p.Asp91Ala)	MYO7A (D80A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310772	NM_000260.4(MYO7A):c.282C>G (p.Ile94Met)	MYO7A (I83M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199867	NM_000260.4(MYO7A):c.284A>G (p.Tyr95Cys)	MYO7A (Y84C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 419493	NM_000260.4(MYO7A):c.285+1G>C	MYO7A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GPathogenic/Likely pathogenic
Select item 489095	NM_000260.4(MYO7A):c.285+2T>C	MYO7A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GPathogenic/Likely pathogenic
Select item 1245861	NM_000260.4(MYO7A):c.285+73C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200113	NM_000260.4(MYO7A):c.285+301T>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283641	NM_000260.4(MYO7A):c.286-246T>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210639	NM_000260.4(MYO7A):c.286-27G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 43192	NM_000260.4(MYO7A):c.286-5C>T	MYO7A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GBenign/Likely benign
Select item 43195	NM_000260.4(MYO7A):c.288G>A (p.Thr96=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 817097	NM_000260.4(MYO7A):c.321_322insA (p.Tyr108fs)	MYO7A (Y108fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 43201	NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)	MYO7A	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 418366	NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs)	MYO7A (E117fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1002616	NM_000260.4(MYO7A):c.341A>G (p.Tyr114Cys)	MYO7A (Y103C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 43213	NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)	MYO7A (R120S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43214	NM_000260.4(MYO7A):c.359G>A (p.Arg120His)	MYO7A (R120H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +2 more	GConflicting classifications of pathogenicity
Select item 43224	NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)	MYO7A (I127T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GConflicting classifications of pathogenicity
Select item 426505	NM_000260.4(MYO7A):c.388A>G (p.Met130Val)	MYO7A (M130V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43230	NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)	MYO7A (I134N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 178475	NM_000260.4(MYO7A):c.448C>A (p.Arg150=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GConflicting classifications of pathogenicity
Select item 11847	NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)	MYO7A (R150* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 43244	NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)	MYO7A (R150Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43252	NM_000260.4(MYO7A):c.468C>T (p.Ile156=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GBenign
Select item 177712	NM_000260.4(MYO7A):c.470+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 1179636	NM_000260.4(MYO7A):c.470+6C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 515560	NM_000260.4(MYO7A):c.470+6C>A	MYO7A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 755392	NM_000260.4(MYO7A):c.470+7G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678828	NM_000260.4(MYO7A):c.470+96C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189746	NM_000260.4(MYO7A):c.470+117C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187513	NM_000260.4(MYO7A):c.470+123C>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216211	NM_000260.4(MYO7A):c.471-73G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 43262	NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)	MYO7A (A162T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GUncertain significance
Select item 504713	NM_000260.4(MYO7A):c.486C>T (p.Ala162=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 553070	NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)	MYO7A (G163R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 43264	NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)	MYO7A (T165M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3378345	NM_000260.4(MYO7A):c.502A>G (p.Thr168Ala)	MYO7A (T157A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306027	NM_000260.4(MYO7A):c.506A>G (p.Lys169Arg)	MYO7A (K158R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43272	NM_000260.4(MYO7A):c.510G>A (p.Leu170=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 179841	NM_000260.4(MYO7A):c.514C>T (p.Leu172=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 861280	NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)	MYO7A (S172L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 306161	NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)	MYO7A (Q188E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GConflicting classifications of pathogenicity
Select item 2501575	NM_000260.4(MYO7A):c.592+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1188144	NM_000260.4(MYO7A):c.593-40G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 43307	NM_000260.4(MYO7A):c.593-5C>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 844494	NM_000260.4(MYO7A):c.613A>G (p.Ile205Val)	MYO7A (I194V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504644	NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)	MYO7A (I205T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 505248	NM_000260.4(MYO7A):c.618C>T (p.Arg206=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1189484	NM_000260.4(MYO7A):c.632G>A (p.Ser211Asn)	MYO7A (S200N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 29924	NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)	MYO7A (D218N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2065243	NM_000260.4(MYO7A):c.671G>A (p.Arg224Gln)	MYO7A (R213Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291005	NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)	MYO7A (A226T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43339	NM_000260.4(MYO7A):c.687C>T (p.Gly229=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 178993	NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)	MYO7A (A230V +1 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +4 more	GPathogenic/Likely pathogenic
Select item 11848	NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	MYO7A (Q234* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic
Select item 438180	NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)	MYO7A (R241C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 43340	NM_000260.4(MYO7A):c.722G>A (p.Arg241His)	MYO7A (R241H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 289999	NM_000260.4(MYO7A):c.731G>A (p.Arg244His)	MYO7A (R244H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 858618	NM_000260.4(MYO7A):c.735+3G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1208401	NM_000260.4(MYO7A):c.735+64C>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196806	NM_000260.4(MYO7A):c.736-117C>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255667	NM_000260.4(MYO7A):c.736-47C>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 43342	NM_000260.4(MYO7A):c.736-15_736-4dup	MYO7A	Duplication (intron variant)	not provided +1 more	GBenign
Select item 179682	NM_000260.4(MYO7A):c.758A>G (p.His253Arg)	MYO7A (H253R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3343519	NM_000260.4(MYO7A):c.760G>A (p.Val254Met)	MYO7A (V243M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43343	NM_000260.4(MYO7A):c.783T>C (p.Gly261=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GBenign

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