"LRTOMT-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344959	NM_145309.6(LRRC51):c.52T>C (p.Tyr18His)	LRRC51, LRTOMT (Y18H)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely benign
Select item 305986	NM_145309.6(LRRC51):c.255C>T (p.Asp85=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63 +3 more	GConflicting classifications of pathogenicity
Select item 226718	NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)	LRRC51, LRTOMT (G118R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3039178	NM_145309.6(LRRC51):c.409A>G (p.Asn137Asp)	LRRC51, LRTOMT (N119D +1 more)	Single nucleotide variant (missense variant +2 more)	LRTOMT-related disorder	GLikely benign
Select item 3034517	NM_145309.6(LRRC51):c.468C>T (p.Ile156=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related disorder	GLikely benign
Select item 3042061	NM_145309.6(LRRC51):c.529C>T (p.Arg177Cys)	LRRC51, LRTOMT (R159C +1 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related disorder	GLikely benign
Select item 1049568	NM_145309.6(LRRC51):c.*1201A>C	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GBenign
Select item 1990238	NM_001393500.2(TOMT):c.85C>T (p.Arg29Cys)	LRTOMT, TOMT (R29C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 305990	NM_001393500.2(TOMT):c.90G>A (p.Thr30=)	TOMT, LRTOMT	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 227535	NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro)	ANAPC15, LRTOMT +1 more (A133P +2 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3039904	NM_001393500.2(TOMT):c.300T>G (p.Ala100=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related disorder	GLikely benign
Select item 305994	NM_001393500.2(TOMT):c.404C>T (p.Thr135Met)	ANAPC15, LRTOMT +1 more (T168M +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 305996	NM_001393500.2(TOMT):c.486C>T (p.Asp162=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 1670178	NM_001393500.2(TOMT):c.762T>C (p.Tyr254=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +1 more)	LRTOMT-related disorder +1 more	GLikely benign