"TMC1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036183	NM_138691.3(TMC1):c.16+4T>C	TMC1	Single nucleotide variant (intron variant)	TMC1-related disorder	GLikely benign
Select item 367253	NM_138691.3(TMC1):c.473G>A (p.Arg158His)	TMC1 (R158H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +4 more	GUncertain significance
Select item 666935	NM_138691.3(TMC1):c.543T>G (p.Phe181Leu)	TMC1 (F181L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1990176	NM_138691.3(TMC1):c.619T>A (p.Phe207Ile)	TMC1 (F207I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2630333	NM_138691.3(TMC1):c.742-1G>C	TMC1	Single nucleotide variant (splice acceptor variant)	TMC1-related disorder	GLikely pathogenic
Select item 2721169	NM_138691.3(TMC1):c.759C>T (p.Ser253=)	TMC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 179070	NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)	TMC1 (R445C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +5 more	GConflicting classifications of pathogenicity
Select item 2712349	NM_138691.3(TMC1):c.1362A>G (p.Leu454=)	TMC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 367257	NM_138691.3(TMC1):c.1584A>G (p.Thr528=)	TMC1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 36 +3 more	GConflicting classifications of pathogenicity
Select item 2632373	NM_138691.3(TMC1):c.1696C>T (p.Pro566Ser)	TMC1 (P566S)	Single nucleotide variant (missense variant)	TMC1-related disorder	GUncertain significance
Select item 2983980	NM_138691.3(TMC1):c.1704C>T (p.Tyr568=)	TMC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1194948	NM_138691.3(TMC1):c.1764-5T>C	TMC1	Single nucleotide variant (intron variant)	TMC1-related disorder +1 more	GLikely benign
Select item 2635879	NM_138691.3(TMC1):c.2050G>C (p.Asp684His)	TMC1 (D684H)	Single nucleotide variant (missense variant)	TMC1-related disorder +1 more	GPathogenic
Select item 2632483	NM_138691.3(TMC1):c.2237A>G (p.Lys746Arg)	TMC1 (K746R)	Single nucleotide variant (missense variant)	TMC1-related disorder	GUncertain significance
Select item 227099	NM_138691.3(TMC1):c.2260+3_2260+5del	TMC1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign