"Illumina Laboratory Services, Illumina"[submitter] AND "LRRC51"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305981	NM_145309.6(LRRC51):c.-162G>A	LRRC51, LRTOMT	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 632173	NM_145309.6(LRRC51):c.-140+1G>T	LRTOMT, LRRC51	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305982	NM_145309.6(LRRC51):c.-140+5G>A	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305983	NM_145309.6(LRRC51):c.99G>A (p.Glu33=)	LRTOMT, LRRC51	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305984	NM_145309.6(LRRC51):c.148C>G (p.Leu50Val)	LRRC51, LRTOMT (L50V +1 more)	Single nucleotide variant (missense variant +2 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 305985	NM_145309.6(LRRC51):c.150G>T (p.Leu50=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881327	NM_145309.6(LRTOMT):c.230A>G (p.His77Arg)	LRRC51, LRTOMT (H77R +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305986	NM_145309.6(LRRC51):c.255C>T (p.Asp85=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	LRTOMT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 305987	NM_145309.6(LRRC51):c.281T>C (p.Ile94Thr)	LRRC51, LRTOMT (I94T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305988	NM_145309.6(LRRC51):c.347G>A (p.Arg116His)	LRRC51, LRTOMT (R116H +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 226718	NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)	LRRC51, LRTOMT (G118R +1 more)	Single nucleotide variant (missense variant +2 more)	LRTOMT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 305989	NM_145309.6(LRRC51):c.388del (p.Arg130fs)	LRRC51, LRTOMT (R112fs +1 more)	Deletion (frameshift variant +2 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance