ClinVar for Gene (Select 90273) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2649927	NM_001098506.4(CEACAM21):c.849C>T (p.Pro283=)	CEACAM21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569345	NM_001098506.4(CEACAM21):c.733G>C (p.Val245Leu)	CEACAM21 (V116L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance
Select item 2406970	NM_001098506.4(CEACAM21):c.415C>T (p.Arg139Cys)	CEACAM21 (R139C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406029	NM_001098506.4(CEACAM21):c.91C>T (p.Pro31Ser)	CEACAM21 (P31S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391385	NM_001098506.4(CEACAM21):c.805G>A (p.Asp269Asn)	CEACAM21 (D141N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389319	NM_001098506.4(CEACAM21):c.863C>T (p.Ser288Phe)	CEACAM21 (S159F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385962	NM_001098506.4(CEACAM21):c.547C>T (p.Arg183Cys)	CEACAM21 (R183C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360220	NM_001098506.4(CEACAM21):c.512C>T (p.Thr171Ile)	CEACAM21 (T171I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298608	NM_001098506.4(CEACAM21):c.62C>T (p.Thr21Ile)	CEACAM21 (T21I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2282712	NM_001098506.4(CEACAM21):c.65C>T (p.Ala22Val)	CEACAM21 (A22V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269098	NM_001098506.4(CEACAM21):c.712A>G (p.Thr238Ala)	CEACAM21 (T110A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237512	NM_001098506.4(CEACAM21):c.835C>A (p.Pro279Thr)	CEACAM21 (P150T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223790	NM_001098506.4(CEACAM21):c.205A>C (p.Lys69Gln)	CEACAM21 (K69Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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	LOC130064390, LOC130064391 +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: 24