ClinVar for Gene (Select 1089) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141826	NM_001817.4(CEACAM4):c.725T>C (p.Val242Ala)	CEACAM4 (W203R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141825	NM_001817.4(CEACAM4):c.394G>A (p.Asp132Asn)	CEACAM4 (D132N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141824	NM_001817.4(CEACAM4):c.379G>A (p.Ala127Thr)	CEACAM4 (A127T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141823	NM_001817.4(CEACAM4):c.340C>G (p.Leu114Val)	CEACAM4 (L114V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608262	NM_001817.4(CEACAM4):c.293G>A (p.Arg98Gln)	CEACAM4 (R98Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607148	NM_001817.4(CEACAM4):c.286A>T (p.Ser96Cys)	CEACAM4 (S96C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594205	NM_001817.4(CEACAM4):c.215C>T (p.Thr72Met)	CEACAM4 (T72M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470540	NM_001817.4(CEACAM4):c.7C>G (p.Pro3Ala)	CEACAM4 (P3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 2395451	NM_001817.4(CEACAM4):c.25C>T (p.Arg9Cys)	CEACAM4 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387721	NM_001817.4(CEACAM4):c.659C>T (p.Pro220Leu)	CEACAM4 (P181S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347719	NM_001817.4(CEACAM4):c.728T>C (p.Val243Ala)	CEACAM4 (V123A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282159	NM_001817.4(CEACAM4):c.86A>G (p.His29Arg)	CEACAM4 (H29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207057	NM_001817.4(CEACAM4):c.89C>T (p.Pro30Leu)	CEACAM4 (P30L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395266	GRCh37/hg19 19q13.2(chr19:42061578-42132185)x3	CEACAM21, CEACAM4	Copy number gain	See cases	GUncertain significance
Select item 394304	GRCh37/hg19 19q13.2(chr19:42061578-42190764)x3	CEACAM21, CEACAM4 +1 more	Copy number gain	See cases	GUncertain significance
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

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Links from Gene

Items: 23