ClinVar for Gene (Select 11316) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268955	NM_007263.4(COPE):c.230C>T (p.Ser77Leu)	COPE (S77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268954	NM_007263.4(COPE):c.73G>A (p.Ala25Thr)	COPE, LOC130064039 (A25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268953	NM_007263.4(COPE):c.692G>A (p.Arg231His)	COPE (R180H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076240	NM_007263.4(COPE):c.844A>G (p.Arg282Gly)	COPE (R282G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076239	NM_007263.4(COPE):c.469C>G (p.Leu157Val)	COPE (L180V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076238	NM_007263.4(COPE):c.301G>A (p.Val101Met)	COPE (V101M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076237	NM_007263.4(COPE):c.148G>T (p.Val50Leu)	COPE (V50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2606923	NM_007263.4(COPE):c.388G>C (p.Asp130His)	COPE (D130H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596744	NM_007263.4(COPE):c.370G>A (p.Ala124Thr)	COPE (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558987	NM_007263.4(COPE):c.5C>G (p.Ala2Gly)	COPE (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556385	NM_007263.4(COPE):c.253C>T (p.Arg85Cys)	COPE (R85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512924	NM_007263.4(COPE):c.212A>G (p.Asp71Gly)	COPE (D71G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481553	NM_007263.4(COPE):c.26C>T (p.Ala9Val)	COPE (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471868	NM_007263.4(COPE):c.160G>A (p.Val54Ile)	COPE (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456011	NM_007263.4(COPE):c.891T>A (p.Phe297Leu)	COPE (F320L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2401368	NM_007263.4(COPE):c.269A>G (p.Tyr90Cys)	COPE (Y90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400348	NM_007263.4(COPE):c.706G>A (p.Glu236Lys)	COPE (E236K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331501	NM_007263.4(COPE):c.496C>G (p.Arg166Gly)	COPE (R189G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294655	NM_007263.4(COPE):c.553G>A (p.Ala185Thr)	COPE (A134T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279012	NM_007263.4(COPE):c.455C>A (p.Thr152Lys)	COPE (T152K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246186	NM_007263.4(COPE):c.176C>T (p.Ala59Val)	COPE (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 31