C1853276[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437317	NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)	TRIOBP (H236Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437314	NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)	TRIOBP (Q765K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437318	NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)	TRIOBP (T839S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437316	NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)	TRIOBP (R899G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1254535	NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln)	TRIOBP (R1221Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 1254805	NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp)	TRIOBP (E1314D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 1325234	NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter)	TRIOBP (W1427*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 2437315	NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)	TRIOBP (T1513M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2690273	NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)	LOC126863145, TRIOBP (R127L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance