TMEM117[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 155670	GRCh38/hg38 12q12(chr12:43477600-44820113)x4	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GLikely benign
Select item 146347	GRCh38/hg38 12q12(chr12:43514638-44793576)x3	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2339645	NM_002822.5(TWF1):c.854G>A (p.Arg285Lys)	TWF1, TMEM117 (R285K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221996	NM_002822.5(TWF1):c.848T>C (p.Val283Ala)	TWF1, TMEM117 (V283A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225570	NM_002822.5(TWF1):c.833G>A (p.Arg278His)	TMEM117, TWF1 (R285H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307830	NM_002822.5(TWF1):c.716T>G (p.Phe239Cys)	TWF1, TMEM117 (F246C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284130	NM_002822.5(TWF1):c.653C>A (p.Thr218Lys)	TMEM117, TWF1 (T218K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324290	NM_002822.5(TWF1):c.496G>A (p.Val166Met)	TMEM117, TWF1 (V166M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227065	NM_002822.5(TWF1):c.463C>G (p.Arg155Gly)	TWF1, TMEM117 (R155G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519018	NM_002822.5(TWF1):c.439C>G (p.Leu147Val)	TMEM117, TWF1 (L147V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520062	NM_002822.5(TWF1):c.419C>T (p.Ser140Leu)	TMEM117, TWF1 (S140L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235210	NM_002822.5(TWF1):c.407A>C (p.Lys136Thr)	TWF1, TMEM117 (K136T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316402	NM_002822.5(TWF1):c.222T>G (p.Asp74Glu)	TWF1, TMEM117 (D74E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466573	NM_032256.3(TMEM117):c.46A>G (p.Met16Val)	TMEM117 (M16V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243901	NM_032256.3(TMEM117):c.159T>G (p.Phe53Leu)	TMEM117 (F53L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524827	NM_032256.3(TMEM117):c.375A>G (p.Ile125Met)	TMEM117 (I55V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369643	NM_032256.3(TMEM117):c.383C>T (p.Thr128Met)	TMEM117 (T128M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2492894	NM_032256.3(TMEM117):c.398A>T (p.Asp133Val)	TMEM117 (D133V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2478103	NM_032256.3(TMEM117):c.531G>C (p.Gln177His)	TMEM117 (Q33H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328647	NM_032256.3(TMEM117):c.683A>T (p.Asn228Ile)	TMEM117 (N124I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295915	NM_032256.3(TMEM117):c.686G>A (p.Arg229Gln)	TMEM117 (R229Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549761	NM_032256.3(TMEM117):c.712T>G (p.Ser238Ala)	TMEM117 (S238A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479603	NM_032256.3(TMEM117):c.752T>A (p.Leu251His)	TMEM117 (L147H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243298	NM_032256.3(TMEM117):c.823C>T (p.His275Tyr)	TMEM117 (H171Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351002	NM_032256.3(TMEM117):c.887T>C (p.Ile296Thr)	TMEM117 (I296T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269873	NM_032256.3(TMEM117):c.1139T>G (p.Phe380Cys)	TMEM117 (F236C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376464	NM_032256.3(TMEM117):c.1144C>T (p.His382Tyr)	TMEM117 (H238Y +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457719	NM_032256.3(TMEM117):c.1267C>T (p.Arg423Cys)	TMEM117 (R319C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253852	NM_032256.3(TMEM117):c.1298G>T (p.Arg433Leu)	TMEM117 (R289L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481399	NM_032256.3(TMEM117):c.1345A>G (p.Thr449Ala)	TMEM117 (T305A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339119	NM_032256.3(TMEM117):c.1369G>A (p.Val457Ile)	TMEM117 (V457I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248030	NM_032256.3(TMEM117):c.1453T>G (p.Ser485Ala)	TMEM117 (S485A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1809150	GRCh37/hg19 12q12(chr12:44655649-44831529)x1	TMEM117	Copy number loss	not provided	GUncertain significance
Select item 1808488	GRCh37/hg19 12q12(chr12:44080990-44354797)x1	IRAK4, PUS7L +2 more	Copy number loss	not provided	GUncertain significance
Select item 1807749	GRCh37/hg19 12q12(chr12:44290545-44457702)x1	TMEM117	Copy number loss	not provided	GUncertain significance
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979962	GRCh37/hg19 12q12(chr12:43953566-46197331)x3	DBX2, ANO6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815523	GRCh37/hg19 12q12(chr12:44443029-44585529)x1	TMEM117	Copy number loss	not provided	GUncertain significance
Select item 563924	GRCh37/hg19 12q12(chr12:44091295-44354797)x1	PUS7L, TWF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563921	GRCh37/hg19 12q12(chr12:44090896-44343135)x1	PUS7L, TWF1 +2 more	Copy number loss	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 50