Related gene-specific medical variations for Gene (Select 117531) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382876	NM_138691.3(TMC1):c.766T>C (p.Phe256Leu)	TMC1 (F256L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 3382875	NM_138691.3(TMC1):c.1014C>G (p.Ile338Met)	TMC1 (I338M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 3382002	NM_138691.3(TMC1):c.665G>A (p.Gly222Asp)	TMC1 (G222D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 3361072	NM_138691.3(TMC1):c.1671G>T (p.Trp557Cys)	TMC1 (W557C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360434	NM_138691.3(TMC1):c.1555A>G (p.Met519Val)	TMC1 (M519V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245396	NC_000009.11:g.(?_75231331)_(75263600_?)del	TMC1	Deletion	not provided	GPathogenic
Select item 3245394	NC_000009.11:g.(?_75231331)_(75450889_?)del	TMC1	Deletion	not provided	GPathogenic
Select item 3245393	NC_000009.11:g.(?_75431039)_(75450889_?)del	TMC1	Deletion	not provided	GPathogenic
Select item 3245392	NC_000009.11:g.(?_75263565)_(75263600_?)del	TMC1	Deletion	not provided	GPathogenic
Select item 3245391	NC_000009.11:g.(?_75431039)_(75431146_?)del	TMC1	Deletion	not provided	GPathogenic
Select item 3245390	NC_000009.11:g.(?_75357340)_(75357461_?)del	TMC1	Deletion	not provided	GPathogenic
Select item 3066070	NM_138691.3(TMC1):c.1566+4A>G	TMC1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 7	GPathogenic
Select item 3063062	GRCh37/hg19 9q21.13(chr9:75016020-75172870)x1	TMC1	Copy number loss	not specified	GPathogenic
Select item 2685352	GRCh37/hg19 9q21.13(chr9:75028573-75163613)x1	TMC1	Copy number loss	not provided	GUncertain significance
Select item 1895420	NM_138691.3(TMC1):c.1444T>C (p.Trp482Arg)	TMC1 (W482R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GUncertain significance
Select item 1323692	NM_138691.3(TMC1):c.236+1G>T	TMC1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 931065	NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile)	TMC1 (L401I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7	GUncertain significance
Select item 686078	GRCh37/hg19 9q21.13(chr9:75274024-75318551)x1	TMC1	Copy number loss	not provided	GPathogenic
Select item 443236	GRCh37/hg19 9q21.13(chr9:75425828-75464591)x1	TMC1	Copy number loss	See cases	GUncertain significance
Select item 394070	GRCh37/hg19 9q21.13(chr9:75161655-75253728)x3	TMC1	Copy number gain	See cases	GLikely benign
Select item 262381	NM_138691.3(TMC1):c.742-12G>A	TMC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 253561	GRCh37/hg19 9q21.13(chr9:75161655-75429310)x1	TMC1	Copy number loss	See cases	GPathogenic
Select item 242395	NM_138691.2:c.1210T>C	TMC1 (W404R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 23