TMEM143[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2344940	NM_018273.4(TMEM143):c.1337C>A (p.Thr446Asn)	TMEM143 (T411N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401490	NM_018273.4(TMEM143):c.1304G>C (p.Gly435Ala)	TMEM143 (G335A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460916	NM_018273.4(TMEM143):c.1294C>G (p.Pro432Ala)	TMEM143 (P397A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379627	NM_018273.4(TMEM143):c.1226A>C (p.Glu409Ala)	TMEM143 (E344A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528750	NM_018273.4(TMEM143):c.1200C>A (p.Asn400Lys)	TMEM143 (N365K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314378	NM_018273.4(TMEM143):c.1145G>T (p.Gly382Val)	TMEM143 (G382V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178814	NM_018273.4(TMEM143):c.1118A>G (p.His373Arg)	TMEM143 (H273R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331368	NM_018273.4(TMEM143):c.1076T>G (p.Leu359Arg)	TMEM143 (L324R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178813	NM_018273.4(TMEM143):c.1049A>G (p.Asn350Ser)	TMEM143 (N285S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488922	NM_018273.4(TMEM143):c.1040C>A (p.Thr347Lys)	TMEM143 (T347K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394659	NM_018273.4(TMEM143):c.1040C>G (p.Thr347Arg)	TMEM143 (T312R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544685	NM_018273.4(TMEM143):c.1001A>G (p.Gln334Arg)	TMEM143 (Q299R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488553	NM_018273.4(TMEM143):c.997G>T (p.Ala333Ser)	TMEM143 (A268S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402435	NM_018273.4(TMEM143):c.946G>A (p.Ala316Thr)	TMEM143 (A316T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178825	NM_018273.4(TMEM143):c.938T>G (p.Leu313Arg)	TMEM143 (L313R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341428	NM_018273.4(TMEM143):c.907G>A (p.Asp303Asn)	TMEM143 (D268N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178823	NM_018273.4(TMEM143):c.884A>G (p.Asn295Ser)	TMEM143 (N195S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218518	NM_018273.4(TMEM143):c.880G>A (p.Val294Ile)	TMEM143 (V194I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512433	NM_018273.4(TMEM143):c.815G>A (p.Arg272His)	TMEM143 (R172H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178822	NM_018273.4(TMEM143):c.809A>C (p.Lys270Thr)	TMEM143 (K170T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455179	NM_018273.4(TMEM143):c.773C>T (p.Pro258Leu)	TMEM143 (P158L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589067	NM_018273.4(TMEM143):c.740G>C (p.Gly247Ala)	TMEM143 (G212A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623173	NM_018273.4(TMEM143):c.736C>T (p.Arg246Trp)	TMEM143 (R146W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338277	NM_018273.4(TMEM143):c.725C>T (p.Ala242Val)	TMEM143 (A142V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178821	NM_018273.4(TMEM143):c.667T>C (p.Phe223Leu)	TMEM143 (F223L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286512	NM_018273.4(TMEM143):c.605G>C (p.Trp202Ser)	TMEM143 (W202S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401063	NM_018273.4(TMEM143):c.584A>G (p.Gln195Arg)	TMEM143 (Q130R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589150	NM_018273.4(TMEM143):c.452A>G (p.Gln151Arg)	TMEM143 (Q151R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272248	NM_018273.4(TMEM143):c.425C>T (p.Thr142Met)	TMEM143 (T142M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375668	NM_018273.4(TMEM143):c.404C>A (p.Thr135Asn)	TMEM143 (T135N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348475	NM_018273.4(TMEM143):c.361C>T (p.Arg121Trp)	TMEM143 (R121W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178820	NM_018273.4(TMEM143):c.349C>A (p.Gln117Lys)	TMEM143 (Q117K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532295	NM_018273.4(TMEM143):c.319G>A (p.Val107Met)	TMEM143 (V107M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296941	NM_018273.4(TMEM143):c.313G>T (p.Ala105Ser)	TMEM143 (A105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178818	NM_018273.4(TMEM143):c.311C>T (p.Ser104Leu)	TMEM143 (S104L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350333	NM_018273.4(TMEM143):c.293C>T (p.Ala98Val)	TMEM143 (A98V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178817	NM_018273.4(TMEM143):c.275C>T (p.Ser92Leu)	TMEM143 (S92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364123	NM_018273.4(TMEM143):c.263A>C (p.Gln88Pro)	TMEM143 (Q88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379187	NM_018273.4(TMEM143):c.154G>C (p.Gly52Arg)	TMEM143 (G52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240258	NM_018273.4(TMEM143):c.119C>A (p.Pro40His)	TMEM143 (P40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297966	NM_018273.4(TMEM143):c.88G>C (p.Val30Leu)	TMEM143 (V30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532185	NM_018273.4(TMEM143):c.82G>A (p.Val28Ile)	TMEM143 (V28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242847	NM_018273.4(TMEM143):c.37G>A (p.Gly13Ser)	LOC130064850, TMEM143 (G13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278544	NM_018273.4(TMEM143):c.32G>A (p.Gly11Glu)	LOC130064850, TMEM143 (G11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178816	NM_018273.4(TMEM143):c.26T>G (p.Leu9Arg)	LOC130064850, TMEM143 (L9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559126	NM_018273.4(TMEM143):c.10G>A (p.Glu4Lys)	TMEM143 (E4K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395084	GRCh37/hg19 19q13.33(chr19:48807201-48846153)x3	EMP3, ODAD1 +1 more	Copy number gain	See cases	GBenign

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Items: 58