VDAC1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 58362	GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1	C5orf15, C5orf24 +100 more	Copy number loss	See cases	GPathogenic
Select item 2312827	NM_003374.3(VDAC1):c.758C>G (p.Pro253Arg)	VDAC1 (P177R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464903	NM_003374.3(VDAC1):c.650C>T (p.Thr217Met)	VDAC1 (T194M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188417	NM_003374.3(VDAC1):c.637G>A (p.Gly213Arg)	VDAC1 (G137R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391408	NM_003374.3(VDAC1):c.502A>G (p.Asn168Asp)	VDAC1 (N145D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331988	NM_003374.3(VDAC1):c.454G>A (p.Gly152Ser)	VDAC1 (G24S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335481	NM_003374.3(VDAC1):c.437A>G (p.Tyr146Cys)	VDAC1 (Y123C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216457	NM_003374.3(VDAC1):c.353A>G (p.Tyr118Cys)	VDAC1 (Y132C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250523	NM_003374.3(VDAC1):c.184T>A (p.Tyr62Asn)	VDAC1 (Y62N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459681	NM_003374.3(VDAC1):c.183G>C (p.Lys61Asn)	VDAC1 (K38N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514306	NM_003374.3(VDAC1):c.164C>T (p.Thr55Met)	VDAC1 (T55M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188416	NM_003374.3(VDAC1):c.44G>C (p.Arg15Thr)	VDAC1 (G9R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 30