1084[Gene ID] - ClinVar

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Items: 38

	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 2480055	NM_001815.5(CEACAM3):c.34T>C (p.Cys12Arg)	CEACAM3 (C12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616517	NM_001815.5(CEACAM3):c.134T>G (p.Val45Gly)	CEACAM3 (V45G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280379	NM_001815.5(CEACAM3):c.180G>C (p.Gln60His)	CEACAM3 (Q60H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592921	NM_001815.5(CEACAM3):c.197G>A (p.Ser66Asn)	CEACAM3 (S66N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 769003	NM_001815.5(CEACAM3):c.229A>C (p.Ser77Arg)	CEACAM3 (S77R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 769004	NM_001815.5(CEACAM3):c.233T>A (p.Leu78Gln)	CEACAM3 (L78Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 769005	NM_001815.5(CEACAM3):c.248T>C (p.Val83Ala)	CEACAM3 (V83A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2265397	NM_001815.5(CEACAM3):c.250A>G (p.Ile84Val)	CEACAM3 (I84V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3265668	NM_001815.5(CEACAM3):c.269C>T (p.Thr90Ile)	CEACAM3 (T90I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769006	NM_001815.5(CEACAM3):c.277G>C (p.Ala93Pro)	CEACAM3 (A93P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3141819	NM_001815.5(CEACAM3):c.280G>A (p.Ala94Thr)	CEACAM3 (A94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769007	NM_001815.5(CEACAM3):c.283T>A (p.Tyr95Asn)	CEACAM3 (Y95N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3141820	NM_001815.5(CEACAM3):c.290G>A (p.Gly97Asp)	CEACAM3 (G97D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510307	NM_001815.5(CEACAM3):c.293G>A (p.Arg98Gln)	CEACAM3 (R98Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293520	NM_001815.5(CEACAM3):c.304T>C (p.Tyr102His)	CEACAM3 (Y102H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777493	NM_001815.5(CEACAM3):c.309C>A (p.Thr103=)	CEACAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 771930	NM_001815.5(CEACAM3):c.333T>C (p.Asn111=)	CEACAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 769008	NM_001815.5(CEACAM3):c.398A>G (p.Glu133Gly)	CEACAM3 (E133G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 769009	NM_001815.5(CEACAM3):c.405T>C (p.Thr135=)	CEACAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3141821	NM_001815.5(CEACAM3):c.460G>A (p.Ala154Thr)	CEACAM3 (A154T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334276	NM_001815.5(CEACAM3):c.475G>A (p.Gly159Arg)	CEACAM3 (G159R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615175	NM_001815.5(CEACAM3):c.544A>G (p.Thr182Ala)	CEACAM3 (T182A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2301680	NM_001815.5(CEACAM3):c.556C>T (p.Arg186Cys)	CEACAM3 (R186C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470569	NM_001815.5(CEACAM3):c.598C>T (p.Arg200Cys)	CEACAM3 (P182L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561147	NM_001815.5(CEACAM3):c.599G>A (p.Arg200His)	CEACAM3 (R200H)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2537512	NM_001815.5(CEACAM3):c.622T>G (p.Phe208Val)	CEACAM3 (L190R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141822	NM_001815.5(CEACAM3):c.674C>T (p.Thr225Ile)	CEACAM3 (T225I)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2512242	NM_001815.5(CEACAM3):c.692A>C (p.Glu231Ala)	CEACAM3 (E231A)	Single nucleotide variant (stop lost +2 more)	not specified	GUncertain significance
Select item 2513546	NM_001815.5(CEACAM3):c.728G>A (p.Arg243Gln)	CEACAM3 (R243Q)	Single nucleotide variant (missense variant +2 more)	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 980764	GRCh37/hg19 19q13.2(chr19:42259135-42393370)x3	ARHGEF1, CD79A +5 more	Copy number gain	not provided	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

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Items: 38