1087[Gene ID] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3265679	NM_001291485.2(CEACAM7):c.704G>A (p.Arg235His)	CEACAM7 (R235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141851	NM_001291485.2(CEACAM7):c.676C>T (p.Arg226Cys)	CEACAM7 (R226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265678	NM_001291485.2(CEACAM7):c.641A>G (p.Tyr214Cys)	CEACAM7 (Y214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265683	NM_001291485.2(CEACAM7):c.502T>G (p.Cys168Gly)	CEACAM7 (C168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351155	NM_001291485.2(CEACAM7):c.494T>C (p.Val165Ala)	CEACAM7 (V165A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287595	NM_001291485.2(CEACAM7):c.467A>G (p.Asn156Ser)	CEACAM7 (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265677	NM_001291485.2(CEACAM7):c.373G>A (p.Val125Ile)	CEACAM7 (V125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141850	NM_001291485.2(CEACAM7):c.365C>A (p.Thr122Asn)	CEACAM7 (T122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334277	NM_001291485.2(CEACAM7):c.331C>A (p.Gln111Lys)	CEACAM7 (Q111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141849	NM_001291485.2(CEACAM7):c.304A>G (p.Ile102Val)	CEACAM7 (I102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265680	NM_001291485.2(CEACAM7):c.287A>T (p.His96Leu)	CEACAM7 (H96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265682	NM_001291485.2(CEACAM7):c.274C>T (p.Pro92Ser)	CEACAM7 (P92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267142	NM_001291485.2(CEACAM7):c.261T>G (p.Ser87Arg)	CEACAM7 (S87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603844	NM_001291485.2(CEACAM7):c.241G>A (p.Gly81Arg)	CEACAM7 (G81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141848	NM_001291485.2(CEACAM7):c.239T>C (p.Ile80Thr)	CEACAM7 (I80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141847	NM_001291485.2(CEACAM7):c.209G>T (p.Gly70Val)	CEACAM7 (G70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141846	NM_001291485.2(CEACAM7):c.194A>G (p.Tyr65Cys)	CEACAM7 (Y65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141845	NM_001291485.2(CEACAM7):c.136G>T (p.Ala46Ser)	CEACAM7 (A46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470123	NM_001291485.2(CEACAM7):c.125C>T (p.Pro42Leu)	CEACAM7 (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603709	NM_001291485.2(CEACAM7):c.22C>A (p.Pro8Thr)	CEACAM7 (P8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141844	NM_001291485.2(CEACAM7):c.11C>T (p.Pro4Leu)	CEACAM7 (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 816083	GRCh37/hg19 19q13.2(chr19:41889319-42338832)x3	B3GNT8, BCKDHA +10 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 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 394304	GRCh37/hg19 19q13.2(chr19:42061578-42190764)x3	CEACAM21, CEACAM4 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 30