TMEM176B[gene] - ClinVar

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

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129389950, LOC129999513 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129389931, LOC129389932 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	TRC-GCA22-1, TRC-GCA23-1 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999578, LOC129999579 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ATG9B, ATP6V0E2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC129389937, LOC129389938 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	LOC126860222, LOC126860223 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	LOC129999605, LOC129999606 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	LOC110121278, LOC110121279 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 2526582	NM_001101312.2(TMEM176B):c.650A>G (p.Lys217Arg)	TMEM176B (K180R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546189	NM_001101312.2(TMEM176B):c.620G>T (p.Arg207Leu)	TMEM176B (R207L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178986	NM_001101312.2(TMEM176B):c.619C>T (p.Arg207Cys)	TMEM176B (R170C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279542	NM_001101312.2(TMEM176B):c.619C>A (p.Arg207Ser)	TMEM176B (R170S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256403	NM_001101312.2(TMEM176B):c.617T>C (p.Ile206Thr)	TMEM176B (I169T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488608	NM_001101312.2(TMEM176B):c.593T>C (p.Met198Thr)	TMEM176B (M198T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277237	NM_001101312.2(TMEM176B):c.586A>T (p.Met196Leu)	TMEM176B (M196L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178985	NM_001101312.2(TMEM176B):c.563A>C (p.Gln188Pro)	TMEM176B (Q188P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484858	NM_001101312.2(TMEM176B):c.542G>A (p.Arg181Gln)	TMEM176B (R197Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178984	NM_001101312.2(TMEM176B):c.520A>G (p.Thr174Ala)	TMEM176B (T137A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220181	NM_001101312.2(TMEM176B):c.431T>C (p.Val144Ala)	TMEM176B (V107A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337916	NM_001101312.2(TMEM176B):c.281G>A (p.Ser94Asn)	TMEM176B (S110N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279394	NM_001101312.2(TMEM176B):c.224G>A (p.Gly75Glu)	TMEM176B (G91E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392883	NM_001101312.2(TMEM176B):c.157A>G (p.Thr53Ala)	TMEM176B (T69A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369661	NM_001101312.2(TMEM176B):c.155A>T (p.Asp52Val)	TMEM176B (D52V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315489	NM_001101312.2(TMEM176B):c.152G>A (p.Gly51Glu)	TMEM176B (G67E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261096	NM_001101312.2(TMEM176B):c.134A>G (p.Lys45Arg)	TMEM176B (K45R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556294	NM_001101312.2(TMEM176B):c.71A>C (p.Asn24Thr)	TMEM176B (N24T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359586	NM_001101312.2(TMEM176B):c.35C>T (p.Ala12Val)	TMEM176B (A12V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315799	NM_001101312.2(TMEM176B):c.28G>A (p.Gly10Arg)	TMEM176B (G10R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	KRBA1, LLCFC1 +125 more	Copy number loss	not provided	GPathogenic
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ASB10, ASIC3 +31 more	Deletion	not provided	GPathogenic
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 1808990	GRCh37/hg19 7q36.1(chr7:150018908-150591382)x1	ACTR3C, AOC1 +14 more	Copy number loss	not provided	GUncertain significance
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527412	GRCh37/hg19 7q36.1(chr7:150109825-150700159)	AOC1, GIMAP1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ABCB8, ABCF2 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	ABCF2, ACTR3B +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830893	NC_000007.13:g.(?_150066801)_(150759750_?)del	CDK5, GIMAP1 +17 more	Deletion	Long QT syndrome	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686901	GRCh37/hg19 7q36.1(chr7:150112013-150707556)x3	AOC1, GIMAP1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	ABCB8, ABCF2 +166 more	Copy number gain	See cases	GPathogenic
Select item 393748	GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3	ABCB8, ABCF2 +63 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	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: 93