ClinVar for MedGen (Select 453237) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075700	NM_001031679.3(MSRB3):c.293-2A>G	MSRB3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 74	GLikely pathogenic
Select item 1709363	NM_001031679.3(MSRB3):c.383G>A (p.Cys128Tyr)	MSRB3 (C128Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 74	GUncertain significance
Select item 1709362	NM_001031679.3(MSRB3):c.238GTT[1] (p.Val81del)	MSRB3 (V81del +1 more)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 74	GUncertain significance
Select item 1324742	NM_001031679.3(MSRB3):c.-147T>G	MSRB3 (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 74	GLikely pathogenic
Select item 1324741	NM_001031679.3(MSRB3):c.77-2A>G	MSRB3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301588	NM_001031679.3(MSRB3):c.-51-1502G>A	MSRB3	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 74	GUncertain significance
Select item 1185616	NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg)	MSRB3 (G136R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 74	GLikely pathogenic
Select item 562077	NM_001031679.3(MSRB3):c.391-1G>A	MSRB3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 74	GPathogenic
Select item 31056	NM_001031679.3(MSRB3):c.55C>T (p.Arg19Ter)	MSRB3 (R19*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 74	GPathogenic
Select item 31055	NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)	MSRB3 (C89G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 74 +1 more	GPathogenic/Likely pathogenic