C1832828[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417910	NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)	OTOF (A1980S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1497506	NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg)	OTOF (K1278R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
Select item 65812	NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)	OTOF (L1934fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1185577	NM_194248.3(OTOF):c.5785A>C (p.Asn1929His)	OTOF (N1162H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 391704	NM_194248.3(OTOF):c.5632G>A (p.Val1878Met)	OTOF (V1878M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 48256	NM_194248.3(OTOF):c.5193-1G>A	OTOF	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 48246	NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)	LOC112840921, OTOF (R1680C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178504	NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys)	LOC112840921, OTOF (R1676C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 402270	NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	OTOF (R1583C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 48240	NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)	OTOF (I1573T +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +3 more	GPathogenic/Likely pathogenic
Select item 505202	NM_194248.3(OTOF):c.4561C>T (p.Leu1521=)	OTOF	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
Select item 21852	NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)	OTOF (R1520Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 65804	NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)	OTOF (R1495* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9 +3 more	GPathogenic
Select item 48235	NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)	OTOF (D1488V +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 21849	NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)	OTOF (W1425* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 48230	NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn)	OTOF (D1406N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 402271	NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)	OTOF (R1344* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 229079	NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup)	OTOF	Microsatellite (inframe_insertion)	not specified +2 more	GUncertain significance
Select item 229078	NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del)	OTOF (K1310del +2 more)	Microsatellite (inframe_deletion)	not specified +2 more	GUncertain significance
Select item 48225	NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)	OTOF (C1251G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 48219	NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser)	OTOF (N1203S +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 229072	NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys)	OTOF (R986C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 21840	NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)	OTOF (R963* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21837	NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)	OTOF (R822W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 48180	NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr)	OTOF (I637T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 48177	NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln)	OTOF (R568Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +3 more	GUncertain significance
Select item 48176	NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)	OTOF (R544C)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GConflicting classifications of pathogenicity
Select item 133309	NM_194248.3(OTOF):c.1172del (p.Lys391fs)	OTOF (K391fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21824	NM_194248.3(OTOF):c.158C>T (p.Ala53Val)	OTOF (A53V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 287604	NM_194248.3(OTOF):c.152C>T (p.Pro51Leu)	OTOF (P51L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 48169	NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)	OTOF (R49W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign

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Items: 31