SMIM3[gene] - ClinVar

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Items: 23

	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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 3166589	NM_032947.5(SMIM3):c.5A>T (p.Asp2Val)	SMIM3 (D2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166588	NM_032947.5(SMIM3):c.56A>G (p.Asp19Gly)	SMIM3 (D19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514340	NM_032947.5(SMIM3):c.92T>C (p.Ile31Thr)	SMIM3 (I31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511343	NM_032947.5(SMIM3):c.101T>A (p.Met34Lys)	SMIM3 (M34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166586	NM_032947.5(SMIM3):c.110T>C (p.Leu37Ser)	SMIM3 (L37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320980	NM_032947.5(SMIM3):c.134T>G (p.Val45Gly)	SMIM3 (V45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591085	NM_032947.5(SMIM3):c.143A>G (p.Tyr48Cys)	SMIM3 (Y48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593886	NM_032947.5(SMIM3):c.146G>T (p.Arg49Leu)	SMIM3 (R49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462242	NM_032947.5(SMIM3):c.146G>A (p.Arg49His)	SMIM3 (R49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222935	NM_032947.5(SMIM3):c.149T>G (p.Met50Arg)	SMIM3 (M50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166587	NM_032947.5(SMIM3):c.170G>A (p.Ser57Asn)	SMIM3 (S57N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 686680	GRCh37/hg19 5q33.1(chr5:150155711-150316261)x1	IRGM, SMIM3 +1 more	Copy number loss	not provided	GUncertain significance
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: 23