ClinVar for MedGen (Select 1713569) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248559	NM_001375524.1(TRRAP):c.711+5G>A	TRRAP	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 75	GUncertain significance
Select item 3024225	NM_001375524.1(TRRAP):c.2622+1G>A	TRRAP	Single nucleotide variant (splice donor variant)	Hearing loss, autosomal dominant 75	GLikely pathogenic
Select item 2582431	NM_001375524.1(TRRAP):c.11291C>T (p.Ala3764Val)	TRRAP (A3721V +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 75 +1 more	GUncertain significance
Select item 2575894	NM_001375524.1(TRRAP):c.2573_2577del (p.Pro858fs)	TRRAP (P858fs)	Deletion (frameshift variant)	Hearing loss, autosomal dominant 75	GUncertain significance
Select item 2442113	NM_001375524.1(TRRAP):c.4804A>G (p.Lys1602Glu)	TRRAP (K1577E +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 75 +1 more	GUncertain significance
Select item 2442046	NM_001375524.1(TRRAP):c.8750T>C (p.Met2917Thr)	TRRAP (M2892T +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 75 +1 more	GUncertain significance
Select item 2441838	NM_001375524.1(TRRAP):c.5974A>C (p.Met1992Leu)	TRRAP (M1967L +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism +1 more	GUncertain significance
Select item 1679670	NM_001375524.1(TRRAP):c.9500G>A (p.Arg3167Gln)	TRRAP (R3142Q +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism +2 more	GUncertain significance
Select item 1283529	NM_001375524.1(TRRAP):c.898-46C>T	TRRAP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1269922	NM_001375524.1(TRRAP):c.2200-46C>T	TRRAP	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 75 +2 more	GBenign
Select item 975628	NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val)	TRRAP (M3275V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 973887	NM_001375524.1(TRRAP):c.8738G>A (p.Arg2913His)	TRRAP (R2888H +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 75	GUncertain significance
Select item 812648	NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys)	TRRAP (R171C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign