"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TRIOBP"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 165582	NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)	TRIOBP (P89A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 227126	NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu)	TRIOBP (D168E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1050176	NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)	TRIOBP (R237W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285798	NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)	TRIOBP (P428R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286759	NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu)	TRIOBP (Q717E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1325235	NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)	TRIOBP (R726*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 1305695	NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val)	TRIOBP (D852V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 1495	NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)	TRIOBP (R1117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 996725	NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)	TRIOBP (L1154fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1254535	NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln)	TRIOBP (R1221Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1254805	NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp)	TRIOBP (E1314D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 43852	NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1223857	NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser)	TRIOBP (T1637S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 504690	NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1657554	NM_001039141.3(TRIOBP):c.5688-13G>C	TRIOBP	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GLikely benign
Select item 229363	NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr)	TRIOBP (K1902T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 805686	NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp)	TRIOBP (R2008W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GUncertain significance
Select item 229368	NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)	TRIOBP (R2172Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity