"Genome-Nilou Lab"[submitter] AND "MYO7A"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1177474	NM_000260.4(MYO7A):c.133-88C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1209644	NM_000260.4(MYO7A):c.185C>T (p.Thr62Met)	MYO7A (T51M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
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 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 306160	NM_000260.4(MYO7A):c.549G>A (p.Ser183=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
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 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
Select item 1209645	NM_000260.4(MYO7A):c.843G>A (p.Leu281=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 255659	NM_000260.4(MYO7A):c.1004-35C>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 678821	NM_000260.4(MYO7A):c.1080+65T>C	MYO7A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GBenign
Select item 1016771	NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys)	MYO7A (E378K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GUncertain significance
Select item 228999	NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)	MYO7A (R430C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +5 more	GConflicting classifications of pathogenicity
Select item 43142	NM_000260.4(MYO7A):c.1343+8G>A	MYO7A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 670353	NM_000260.4(MYO7A):c.1554+244T>C	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GBenign
Select item 1209586	NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val)	MYO7A (I546V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +2 more	GConflicting classifications of pathogenicity
Select item 802705	NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)	MYO7A (R559* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 255661	NM_000260.4(MYO7A):c.1936-23G>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 43173	NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)	MYO7A (M708V +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 670355	NM_000260.4(MYO7A):c.2367+67T>C	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1209585	NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)	MYO7A (H790P +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 848652	NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)	MYO7A (R805C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 930007	NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)	MYO7A (R812C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 191024	NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)	MYO7A (R830H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 43185	NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)	MYO7A (V843M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 670356	NM_000260.4(MYO7A):c.2695-58C>G	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1210438	NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys)	MYO7A (R922C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 43194	NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)	MYO7A (Q962H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +5 more	GConflicting classifications of pathogenicity
Select item 43196	NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)	MYO7A (E968D +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1B	GLikely pathogenic FDA Recognized database
Select item 1177464	NM_000260.4(MYO7A):c.2905-162T>G	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 670357	NM_000260.4(MYO7A):c.2905-54A>G	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 285518	NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 255662	NM_000260.4(MYO7A):c.3375+33G>C	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 1147386	NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1210435	NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)	MYO7A (P1209A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +2 more	GUncertain significance
Select item 179208	NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)	MYO7A (P1220L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GUncertain significance
Select item 1209629	NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser)	MYO7A (G1211S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GUncertain significance
Select item 670359	NM_000260.4(MYO7A):c.3750+89C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 670360	NM_000260.4(MYO7A):c.3751-94C>G	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1209584	NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +3 more	GConflicting classifications of pathogenicity
Select item 43226	NM_000260.4(MYO7A):c.3924+12C>T	MYO7A	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 670361	NM_000260.4(MYO7A):c.3924+109G>A	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 43233	NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +5 more	GConflicting classifications of pathogenicity
Select item 255663	NM_000260.4(MYO7A):c.4323+35G>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 673900	NM_000260.4(MYO7A):c.4324-207C>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GBenign
Select item 673901	NM_000260.4(MYO7A):c.4324-202A>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GBenign
Select item 1177475	NM_000260.4(MYO7A):c.4441+89T>C	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1177476	NM_000260.4(MYO7A):c.4441+148A>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +2 more	GBenign
Select item 1177477	NM_000260.4(MYO7A):c.4441+195G>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +2 more	GBenign
Select item 670380	NM_000260.4(MYO7A):c.4442-113A>G	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 43242	NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GConflicting classifications of pathogenicity
Select item 43250	NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)	MYO7A (A1540V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1210436	NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser)	MYO7A (T1522S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2	GUncertain significance
Select item 1109578	NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 43257	NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 43269	NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys)	MYO7A (S1666C +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GBenign
Select item 560898	NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)	MYO7A (G1782A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 846738	NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)	MYO7A (R1741C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 670381	NM_000260.4(MYO7A):c.5480+162C>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GBenign
Select item 678838	NM_000260.4(MYO7A):c.5481-83A>G	MYO7A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GBenign
Select item 670382	NM_000260.4(MYO7A):c.5637-175A>G	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GBenign
Select item 43296	NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=)	MYO7A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 43297	NM_000260.4(MYO7A):c.5743-12T>C	MYO7A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255664	NM_000260.4(MYO7A):c.5856+50G>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 43303	NM_000260.4(MYO7A):c.5857-7A>T	MYO7A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 43304	NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)	MYO7A (L1954I +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 674387	NM_000260.4(MYO7A):c.5944+57G>A	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 674388	NM_000260.4(MYO7A):c.5944+67C>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 43315	NM_000260.4(MYO7A):c.6051+17T>A	MYO7A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 228282	NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)	MYO7A (K2021R +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GLikely pathogenic FDA Recognized database
Select item 374617	NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg)	MYO7A (L2068R +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 373321	NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)	MYO7A (R2079Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GUncertain significance
Select item 43324	NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=)	MYO7A	Single nucleotide variant (synonymous variant)	Usher syndrome type 1 +4 more	GBenign
Select item 1177472	NM_000260.4(MYO7A):c.6354+35G>A	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 255665	NM_000260.4(MYO7A):c.6438+50A>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 255666	NM_000260.4(MYO7A):c.6439-31G>A	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +4 more	GBenign
Select item 1210437	NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile)	MYO7A (T2106I +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 43331	NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GConflicting classifications of pathogenicity
Select item 43332	NM_000260.4(MYO7A):c.6558+16G>A	MYO7A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GBenign
Select item 670385	NM_000260.4(MYO7A):c.6558+51G>T	MYO7A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

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Items: 80