ClinVar for MedGen (Select 376173) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445620	NM_206933.4(USH2A):c.7120+1475A>G	USH2A	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 36	GLikely pathogenic
Select item 2445619	NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro)	USH2A (L4655P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GUncertain significance
Select item 2445618	NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)	USH2A (C3575F)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GLikely pathogenic
Select item 2445617	NM_206933.4(USH2A):c.10593del (p.Ile3532fs)	USH2A (I3532fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 36	GPathogenic
Select item 2443844	NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)	TMC1	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GPathogenic
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 1895419	NM_138691.3(TMC1):c.1256T>C (p.Phe419Ser)	TMC1 (F419S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GUncertain significance
Select item 1333340	NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr)	TMC1 (P659T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GUncertain significance
Select item 1328187	NM_138691.3(TMC1):c.1334G>A (p.Arg445His)	TMC1 (R445H)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 1306523	NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys)	TMC1 (Y323C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +2 more	GUncertain significance
Select item 1303251	NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr)	TMC1 (A438T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 914827	NM_138691.3(TMC1):c.*302A>G	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 914793	NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp)	TMC1 (N671D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 914693	NM_138691.3(TMC1):c.-275G>A	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GConflicting classifications of pathogenicity
Select item 914692	NM_138691.3(TMC1):c.-295A>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 914200	NM_138691.3(TMC1):c.-385G>A	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 914199	NM_138691.3(TMC1):c.-442T>G	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 913799	NM_138691.3(TMC1):c.-481T>C	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 913198	NM_138691.3(TMC1):c.*26G>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GConflicting classifications of pathogenicity
Select item 913197	NM_138691.3(TMC1):c.*10T>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 913148	NM_138691.3(TMC1):c.1594G>A (p.Val532Ile)	TMC1 (V532I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 913147	NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln)	TMC1 (K473Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 913097	NM_138691.3(TMC1):c.46G>A (p.Glu16Lys)	TMC1 (E16K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 912833	NM_138691.3(TMC1):c.2276G>A (p.Arg759His)	TMC1 (R759H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 912832	NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser)	TMC1 (A749S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +2 more	GUncertain significance
Select item 912787	NM_138691.3(TMC1):c.976G>A (p.Gly326Ser)	TMC1 (G326S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 810384	NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys)	TMC1 (E570K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +3 more	GUncertain significance
Select item 594638	NM_138691.3(TMC1):c.2177C>T (p.Ala726Val)	TMC1 (A726V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 546162	NM_138691.3(TMC1):c.373A>C (p.Lys125Gln)	TMC1 (K125Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +2 more	GUncertain significance
Select item 504715	NM_138691.3(TMC1):c.236+1G>A	TMC1	Single nucleotide variant (splice donor variant)	Ear malformation +4 more	GPathogenic
Select item 417923	NM_138691.3(TMC1):c.938T>C (p.Phe313Ser)	TMC1 (F313S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 417922	NM_138691.3(TMC1):c.624C>A (p.Ser208Arg)	TMC1 (S208R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 367267	NM_138691.3(TMC1):c.*183A>G	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GConflicting classifications of pathogenicity
Select item 367266	NM_138691.3(TMC1):c.*156T>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367265	NM_138691.3(TMC1):c.*106G>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +2 more	GConflicting classifications of pathogenicity
Select item 367264	NM_138691.3(TMC1):c.*93C>T	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 367263	NM_138691.3(TMC1):c.*51G>A	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 367262	NM_138691.3(TMC1):c.*28A>C	TMC1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367260	NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr)	TMC1 (K735T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 367259	NM_138691.3(TMC1):c.1609G>A (p.Val537Ile)	TMC1 (V537I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GConflicting classifications of pathogenicity
Select item 367258	NM_138691.3(TMC1):c.1608C>T (p.Tyr536=)	TMC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 367256	NM_138691.3(TMC1):c.910G>A (p.Gly304Arg)	TMC1 (G304R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 367255	NM_138691.3(TMC1):c.795A>C (p.Thr265=)	TMC1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 36 +2 more	GConflicting classifications of pathogenicity
Select item 367254	NM_138691.3(TMC1):c.703G>T (p.Ala235Ser)	TMC1 (A235S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367253	NM_138691.3(TMC1):c.473G>A (p.Arg158His)	TMC1 (R158H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +4 more	GUncertain significance
Select item 367252	NM_138691.3(TMC1):c.237-5T>A	TMC1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 7 +2 more	GUncertain significance
Select item 367251	NM_138691.3(TMC1):c.-124T>C	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GConflicting classifications of pathogenicity
Select item 367250	NM_138691.3(TMC1):c.-219A>G	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GBenign
Select item 367249	NM_138691.3(TMC1):c.-220C>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 367248	NM_138691.3(TMC1):c.-252C>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GUncertain significance
Select item 367247	NM_138691.3(TMC1):c.-329C>A	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GBenign
Select item 367246	NM_138691.3(TMC1):c.-350C>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 36 +1 more	GUncertain significance
Select item 367245	NM_138691.3(TMC1):c.-468G>A	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GBenign
Select item 367244	NM_138691.3(TMC1):c.-540C>T	TMC1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 7 +1 more	GBenign/Likely benign
Select item 287882	NM_138691.3(TMC1):c.956C>G (p.Thr319Ser)	TMC1 (T319S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 286752	NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)	TMC1 (D308E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228405	NM_138691.3(TMC1):c.1236del (p.Met413fs)	TMC1 (M413fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 183668	NM_138691.3(TMC1):c.1253T>A (p.Met418Lys)	TMC1 (M418K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GPathogenic
Select item 179070	NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)	TMC1 (R445C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 178545	NM_138691.3(TMC1):c.1263A>G (p.Pro421=)	TMC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 165441	NM_138691.3(TMC1):c.2070G>A (p.Ala690=)	TMC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 165438	NM_138691.3(TMC1):c.1567-14T>G	TMC1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 77709	NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys)	TMC1 (R759C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 47877	NM_138691.3(TMC1):c.760G>A (p.Val254Ile)	TMC1 (V254I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 47874	NM_138691.3(TMC1):c.45C>T (p.Asp15=)	TMC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 47873	NM_138691.3(TMC1):c.421C>T (p.Arg141Trp)	TMC1 (R141W)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36 +3 more	GConflicting classifications of pathogenicity
Select item 47871	NM_138691.3(TMC1):c.339G>A (p.Met113Ile)	TMC1 (M113I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 47869	NM_138691.3(TMC1):c.241G>A (p.Glu81Lys)	TMC1 (E81K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 47868	NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe)	TMC1 (Y715F)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 47864	NM_138691.3(TMC1):c.1763+3A>G	TMC1	Single nucleotide variant (intron variant)	Nonsyndromic Hearing Loss, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 47863	NM_138691.3(TMC1):c.1713C>T (p.Phe571=)	TMC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 47861	NM_138691.3(TMC1):c.145A>C (p.Ile49Leu)	TMC1 (I49L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 47860	NM_138691.3(TMC1):c.1457T>C (p.Met486Thr)	TMC1 (M486T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 7 +3 more	GBenign/Likely benign
Select item 4105	NM_138691.3(TMC1):c.1714G>C (p.Asp572His)	TMC1 (D572H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 36	GPathogenic
Select item 4103	NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	TMC1 (R34*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic
Select item 4102	NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)	TMC1 (D572N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 77