SELENOW[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 221768	GRCh38/hg38 19q13.33(chr19:47559877-47778812)x1	BICRA, BICRA-AS2 +25 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 3159664	NM_003009.4(SELENOW):c.19G>A (p.Val7Ile)	LOC130064830, SELENOW (V7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159667	NM_003009.4(SELENOW):c.34G>A (p.Ala12Thr)	SELENOW (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159668	NM_003009.4(SELENOW):c.37T>G	SELENOW	Single nucleotide variant	not specified	GUncertain significance
Select item 2472548	NM_003009.4(SELENOW):c.94G>A (p.Gly32Ser)	SELENOW (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159665	NM_003009.4(SELENOW):c.244G>A (p.Ala82Thr)	SELENOW (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159666	NM_003009.4(SELENOW):c.247G>A (p.Ala83Thr)	SELENOW (A83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816088	GRCh37/hg19 19q13.33(chr19:48043102-48402210)x3	NOP53, EHD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 564586	GRCh37/hg19 19q13.33(chr19:48206212-48431087)x3	SULT2A1, NOP53 +5 more	Copy number gain	not provided	GUncertain significance
Select item 493601	GRCh37/hg19 19q13.33(chr19:48242225-48399399)x3	EHD2, NOP53 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 394233	GRCh37/hg19 19q13.33(chr19:48282603-48305390)x3	SELENOW, TPRX1	Copy number gain	See cases	GUncertain significance

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Items: 22