ClinVar for Gene (Select 7110) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327250	NM_007114.3(TMF1):c.2828T>C (p.Met943Thr)	TMF1 (M943T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327249	NM_007114.3(TMF1):c.119A>T (p.Glu40Val)	LOC129937005, TMF1 (E40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327247	NM_007114.3(TMF1):c.150T>A (p.Ser50Arg)	TMF1 (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327246	NM_007114.3(TMF1):c.2699T>A (p.Met900Lys)	TMF1 (M900K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327245	NM_007114.3(TMF1):c.1946T>G (p.Leu649Arg)	TMF1 (L652R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327244	NM_007114.3(TMF1):c.2816G>A (p.Ser939Asn)	TMF1 (S939N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327243	NM_007114.3(TMF1):c.917G>A (p.Arg306His)	TMF1 (R306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179788	NM_007114.3(TMF1):c.661G>C (p.Glu221Gln)	TMF1 (E221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179787	NM_007114.3(TMF1):c.644C>T (p.Thr215Met)	TMF1 (T215M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179786	NM_007114.3(TMF1):c.569C>G (p.Pro190Arg)	TMF1 (P190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179785	NM_007114.3(TMF1):c.376G>A (p.Glu126Lys)	TMF1 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179784	NM_007114.3(TMF1):c.305C>T (p.Ser102Leu)	TMF1 (S102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179783	NM_007114.3(TMF1):c.2896A>G (p.Ile966Val)	TMF1 (I969V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179782	NM_007114.3(TMF1):c.2792C>T (p.Thr931Ile)	TMF1 (T934I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179781	NM_007114.3(TMF1):c.256C>G (p.Arg86Gly)	TMF1 (R86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179780	NM_007114.3(TMF1):c.2540C>T (p.Ala847Val)	TMF1 (A847V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179779	NM_007114.3(TMF1):c.2363C>T (p.Ser788Leu)	TMF1 (S788L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179778	NM_007114.3(TMF1):c.22C>A (p.Gln8Lys)	LOC129937005, TMF1 (Q8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179777	NM_007114.3(TMF1):c.226G>T (p.Ala76Ser)	TMF1 (A76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179776	NM_007114.3(TMF1):c.1921C>T (p.Arg641Cys)	TMF1 (R644C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179775	NM_007114.3(TMF1):c.1158A>G (p.Ile386Met)	TMF1 (I386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179774	NM_007114.3(TMF1):c.1066G>A (p.Val356Met)	TMF1 (V356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 2653959	NM_007114.3(TMF1):c.226G>A (p.Ala76Thr)	TMF1 (A76T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653958	NM_007114.3(TMF1):c.969T>C (p.Phe323=)	TMF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619961	NM_007114.3(TMF1):c.1658A>G (p.Glu553Gly)	TMF1 (E556G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610610	NM_007114.3(TMF1):c.1956G>T (p.Lys652Asn)	TMF1 (K652N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598968	NM_007114.3(TMF1):c.3271A>G (p.Ser1091Gly)	TMF1 (S1091G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593915	NM_007114.3(TMF1):c.1991A>G (p.Tyr664Cys)	TMF1 (Y664C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591104	NM_007114.3(TMF1):c.3142T>A (p.Leu1048Met)	TMF1 (L1048M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544455	NM_007114.3(TMF1):c.1985G>C (p.Ser662Thr)	TMF1 (S665T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543299	NM_007114.3(TMF1):c.3004C>T (p.His1002Tyr)	TMF1 (H1005Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533044	NM_007114.3(TMF1):c.2695A>G (p.Arg899Gly)	TMF1 (R899G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530385	NM_007114.3(TMF1):c.2498C>T (p.Ser833Leu)	TMF1 (S833L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513581	NM_007114.3(TMF1):c.2556G>T (p.Glu852Asp)	TMF1 (E852D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483701	NM_007114.3(TMF1):c.2651C>A (p.Thr884Lys)	TMF1 (T887K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474841	NM_007114.3(TMF1):c.2354A>G (p.Gln785Arg)	TMF1 (Q785R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409583	NM_007114.3(TMF1):c.953G>T (p.Cys318Phe)	TMF1 (C318F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399870	NM_007114.3(TMF1):c.838A>G (p.Thr280Ala)	TMF1 (T280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397454	NM_007114.3(TMF1):c.298T>C (p.Phe100Leu)	TMF1 (F100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376154	NM_007114.3(TMF1):c.2481G>C (p.Gln827His)	TMF1 (Q830H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367983	NM_007114.3(TMF1):c.271G>A (p.Asp91Asn)	TMF1 (D91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359139	NM_007114.3(TMF1):c.532G>A (p.Glu178Lys)	TMF1 (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351178	NM_007114.3(TMF1):c.1009C>T (p.Arg337Trp)	TMF1 (R337W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350498	NM_007114.3(TMF1):c.2192C>T (p.Ala731Val)	TMF1 (A731V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349769	NM_007114.3(TMF1):c.476T>C (p.Val159Ala)	TMF1 (V159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346463	NM_007114.3(TMF1):c.1156A>G (p.Ile386Val)	TMF1 (I386V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339914	NM_007114.3(TMF1):c.1891A>G (p.Met631Val)	TMF1 (M634V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338619	NM_007114.3(TMF1):c.3026A>G (p.Asn1009Ser)	TMF1 (N1012S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320186	NM_007114.3(TMF1):c.2828T>G (p.Met943Arg)	TMF1 (M943R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310423	NM_007114.3(TMF1):c.3235A>G (p.Met1079Val)	TMF1 (M1079V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308712	NM_007114.3(TMF1):c.1527A>C (p.Glu509Asp)	TMF1 (E509D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303540	NM_007114.3(TMF1):c.1621A>G (p.Ser541Gly)	TMF1 (S541G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300861	NM_007114.3(TMF1):c.2348G>T (p.Gly783Val)	TMF1 (G786V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291358	NM_007114.3(TMF1):c.47C>T (p.Ala16Val)	LOC129937005, TMF1 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291141	NM_007114.3(TMF1):c.554C>T (p.Ser185Leu)	TMF1 (S185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290382	NM_007114.3(TMF1):c.2030A>G (p.Lys677Arg)	TMF1 (K680R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284897	NM_007114.3(TMF1):c.2519A>G (p.Gln840Arg)	TMF1 (Q840R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281192	NM_007114.3(TMF1):c.2761C>T (p.Arg921Cys)	TMF1 (R924C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280986	NM_007114.3(TMF1):c.2096C>T (p.Ala699Val)	TMF1 (A699V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269976	NM_007114.3(TMF1):c.3021T>G (p.Ile1007Met)	TMF1 (I1007M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250071	NM_007114.3(TMF1):c.2882T>G (p.Phe961Cys)	TMF1 (F961C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244263	NM_007114.3(TMF1):c.2461C>G (p.Leu821Val)	TMF1 (L824V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240868	NM_007114.3(TMF1):c.884T>C (p.Leu295Pro)	TMF1 (L295P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233964	NM_007114.3(TMF1):c.2527A>G (p.Ser843Gly)	TMF1 (S843G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231449	NM_007114.3(TMF1):c.16G>A (p.Ala6Thr)	LOC129937005, TMF1 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215512	NM_007114.3(TMF1):c.2179C>T (p.Arg727Cys)	TMF1 (R727C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205939	NM_007114.3(TMF1):c.2978T>C (p.Leu993Pro)	TMF1 (L996P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 1340927	GRCh37/hg19 3p14.1-13(chr3:68968872-70829637)x3	ARL6IP5, EOGT +6 more	Copy number gain	not provided	GUncertain significance
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 685612	GRCh37/hg19 3p14.1(chr3:68831471-69535890)x3	ARL6IP5, EOGT +5 more	Copy number gain	not provided	GUncertain significance
Select item 585228	GRCh37/hg19 3p14.1(chr3:68461188-69158250)x1	ARL6IP5, EOGT +5 more	Copy number loss	not provided	Gnot provided
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 80