Related gene-specific medical variations for Gene (Select 340990) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024133	NM_001292063.2(OTOG):c.6453G>A (p.Trp2151Ter)	OTOG (W2151* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 2434525	NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)	OTOG (R1421W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B	GUncertain significance
Select item 1807525	NM_001292063.2(OTOG):c.4166C>T (p.Pro1389Leu)	OTOG (P1389L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324835	NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter)	OTOG (S1762* +1 more)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GLikely pathogenic
Select item 1323399	NM_001292063.2(OTOG):c.4380del (p.Thr1461fs)	OTOG (T1461fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 1323397	NM_001292063.2(OTOG):c.6068del (p.Gly2023fs)	OTOG (G2023fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 1323395	NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs)	OTOG (Y471fs +1 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 1323392	NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter)	OTOG (Q1437* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 1323391	NM_001292063.2(OTOG):c.2119dup (p.Glu707fs)	OTOG (E707fs +1 more)	Duplication (frameshift variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 1298383	NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter)	OTOG (Q400* +1 more)	Single nucleotide variant (nonsense)	Hearing impairment	GPathogenic
Select item 1184874	NM_001292063.2(OTOG):c.7480+1G>A	OTOG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1065084	NM_001277269.2:c.(?_3914)_(6474_?)del	OTOG	Deletion	Hearing impairment	GUncertain significance
Select item 979184	NM_001292063.2(OTOG):c.996G>T (p.Gln332His)	OTOG (Q332H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B	GUncertain significance
Select item 377072	NM_001292063.2(OTOG):c.1063C>T (p.Pro355Ser)	OTOG (P367S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance