C1384666[trait identifier] AND "National Institute on Deafness and Com - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334429	NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys)	LRP2 (Y3933C)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 1710507	NM_004525.3(LRP2):c.9449G>A (p.Cys3150Tyr)	LRP2 (C3150Y)	Single nucleotide variant (missense variant)	Hearing impairment	GLikely pathogenic
Select item 1710508	NM_004525.3(LRP2):c.8452_8452+1del	LRP2	Deletion (splice donor variant)	Hearing impairment	GPathogenic
Select item 211401	NM_004525.3(LRP2):c.7715+3A>T	LRP2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46113	NM_001256317.3(TMPRSS3):c.323-6G>A	TMPRSS3	Single nucleotide variant (intron variant)	Childhood onset hearing loss +4 more	GConflicting classifications of pathogenicity

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