TMEM117[gene] - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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 3185081	NM_002822.5(TWF1):c.865A>G (p.Met289Val)	TMEM117, TWF1 (M296V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339645	NM_002822.5(TWF1):c.854G>A (p.Arg285Lys)	TMEM117, TWF1 (R285K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221996	NM_002822.5(TWF1):c.848T>C (p.Val283Ala)	TMEM117, TWF1 (V283A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3185080	NM_002822.5(TWF1):c.806G>A (p.Arg269Gln)	TMEM117, TWF1 (R276Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330332	NM_002822.5(TWF1):c.734A>G (p.His245Arg)	TMEM117, TWF1 (H252R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307830	NM_002822.5(TWF1):c.716T>G (p.Phe239Cys)	TMEM117, TWF1 (F246C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3185078	NM_002822.5(TWF1):c.484-752A>G	TMEM117, TWF1 (S162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227065	NM_002822.5(TWF1):c.463C>G (p.Arg155Gly)	TMEM117, TWF1 (R155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185077	NM_002822.5(TWF1):c.460C>A (p.Leu154Ile)	TMEM117, TWF1 (L154I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519018	NM_002822.5(TWF1):c.439C>G (p.Leu147Val)	TMEM117, TWF1 (L147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520062	NM_002822.5(TWF1):c.419C>T (p.Ser140Leu)	TMEM117, TWF1 (S140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235210	NM_002822.5(TWF1):c.407A>C (p.Lys136Thr)	TMEM117, TWF1 (K136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316402	NM_002822.5(TWF1):c.222T>G (p.Asp74Glu)	TMEM117, TWF1 (D74E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466573	NM_032256.3(TMEM117):c.46A>G (p.Met16Val)	TMEM117 (M16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178456	NM_032256.3(TMEM117):c.64G>A (p.Val22Met)	TMEM117 (V22M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178453	NM_032256.3(TMEM117):c.133A>G (p.Ile45Val)	TMEM117 (I45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243901	NM_032256.3(TMEM117):c.159T>G (p.Phe53Leu)	TMEM117 (F53L)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2369643	NM_032256.3(TMEM117):c.383C>T (p.Thr128Met)	TMEM117 (T128M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492894	NM_032256.3(TMEM117):c.398A>T (p.Asp133Val)	TMEM117 (D133V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3326664	NM_032256.3(TMEM117):c.491A>G (p.Asp164Gly)	TMEM117 (D164G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478103	NM_032256.3(TMEM117):c.531G>C (p.Gln177His)	TMEM117 (Q33H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328647	NM_032256.3(TMEM117):c.683A>T (p.Asn228Ile)	TMEM117 (N124I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295915	NM_032256.3(TMEM117):c.686G>A (p.Arg229Gln)	TMEM117 (R229Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549761	NM_032256.3(TMEM117):c.712T>G (p.Ser238Ala)	TMEM117 (S238A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479603	NM_032256.3(TMEM117):c.752T>A (p.Leu251His)	TMEM117 (L147H +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3178457	NM_032256.3(TMEM117):c.874G>C (p.Glu292Gln)	TMEM117 (E188Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3178452	NM_032256.3(TMEM117):c.1058A>G (p.Asn353Ser)	TMEM117 (N249S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3326661	NM_032256.3(TMEM117):c.1105C>T (p.Arg369Trp)	TMEM117 (R369W +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3326662	NM_032256.3(TMEM117):c.1146C>G (p.His382Gln)	TMEM117 (H238Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3326663	NM_032256.3(TMEM117):c.1336A>G (p.Met446Val)	TMEM117 (M302V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3178454	NM_032256.3(TMEM117):c.1364C>T (p.Ala455Val)	TMEM117 (A351V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
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)	not specified	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)	not specified	GUncertain significance
Select item 3178455	NM_032256.3(TMEM117):c.1480G>A (p.Glu494Lys)	TMEM117 (E390K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65