TMBIM1[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 2468997	NM_022152.6(TMBIM1):c.877T>C (p.Tyr293His)	PNKD, TMBIM1 (Y182H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1264824	NM_022152.6(TMBIM1):c.846C>G (p.Pro282=)	PNKD, TMBIM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 982213	NM_022152.6(TMBIM1):c.827G>A (p.Arg276Gln)	PNKD, TMBIM1 (R165Q +1 more)	Single nucleotide variant (missense variant +2 more)	Moyamoya angiopathy	GLikely pathogenic
Select item 1241809	NM_022152.6(TMBIM1):c.790-41T>C	PNKD, TMBIM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3178192	NM_022152.6(TMBIM1):c.757T>C (p.Tyr253His)	TMBIM1, PNKD (Y142H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178191	NM_022152.6(TMBIM1):c.753G>A (p.Met251Ile)	TMBIM1, PNKD (M251I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178190	NM_022152.6(TMBIM1):c.633G>C (p.Gln211His)	PNKD, TMBIM1 (Q100H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245092	NM_022152.6(TMBIM1):c.592A>G (p.Thr198Ala)	PNKD, TMBIM1 (T198A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178189	NM_022152.6(TMBIM1):c.579T>G (p.Ile193Met)	TMBIM1, PNKD (I193M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178188	NM_022152.6(TMBIM1):c.515C>G (p.Thr172Ser)	PNKD, TMBIM1 (T172S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623739	NM_022152.6(TMBIM1):c.436G>T (p.Val146Phe)	PNKD, TMBIM1 (V35F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178187	NM_022152.6(TMBIM1):c.415G>A (p.Val139Met)	PNKD, TMBIM1 (V28M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178186	NM_022152.6(TMBIM1):c.382G>A (p.Ala128Thr)	PNKD, TMBIM1 (A17T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589838	NM_022152.6(TMBIM1):c.355A>G (p.Ile119Val)	PNKD, TMBIM1 (I119V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226316	NM_022152.6(TMBIM1):c.275G>A (p.Arg92Gln)	PNKD, TMBIM1 (G3R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178185	NM_022152.6(TMBIM1):c.239T>C (p.Val80Ala)	PNKD, TMBIM1 (V80A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2286049	NM_022152.6(TMBIM1):c.218A>G (p.Tyr73Cys)	PNKD, TMBIM1 (Y73C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1675837	NM_022152.6(TMBIM1):c.202G>A (p.Gly68Ser)	PNKD, TMBIM1 (G68S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 445565	NM_022152.6(TMBIM1):c.128C>T (p.Pro43Leu)	PNKD, TMBIM1 (P43L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 2617031	NM_022152.6(TMBIM1):c.110C>G (p.Pro37Arg)	PNKD, TMBIM1 (P37R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270716	NM_022152.6(TMBIM1):c.38G>A (p.Arg13His)	PNKD, TMBIM1 (R13H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2426171	NC_000002.11:g.(?_219135259)_(219209704_?)dup	TMBIM1, PNKD	Duplication	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	CRYBA2, CTDSP1 +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	PTPRN, RESP18 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 562550	GRCh37/hg19 2q35(chr2:219139778-219368933)x3	CTDSP1, CATIP +6 more	Copy number gain	not provided	GUncertain significance
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 50