ClinVar for Gene (Select 126868) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121829	NM_152367.3(MAB21L3):c.985G>A (p.Val329Ile)	MAB21L3 (V329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121828	NM_152367.3(MAB21L3):c.883T>C (p.Tyr295His)	MAB21L3 (Y295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121827	NM_152367.3(MAB21L3):c.839C>T (p.Thr280Met)	MAB21L3 (T280M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121826	NM_152367.3(MAB21L3):c.458C>A (p.Ala153Glu)	MAB21L3 (A153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121825	NM_152367.3(MAB21L3):c.439C>T (p.Arg147Trp)	MAB21L3 (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121824	NM_152367.3(MAB21L3):c.29A>G (p.Glu10Gly)	MAB21L3 (E10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2639013	NM_152367.3(MAB21L3):c.348G>A (p.Val116=)	MAB21L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559806	NM_152367.3(MAB21L3):c.433G>A (p.Val145Met)	MAB21L3 (V145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540796	NM_152367.3(MAB21L3):c.755A>G (p.Asp252Gly)	MAB21L3 (D252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423983	NC_000001.10:g.(?_116310909)_(116947066_?)dup	ATP1A1, CASQ2 +4 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2411894	NM_152367.3(MAB21L3):c.422A>C (p.Lys141Thr)	MAB21L3 (K141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406117	NM_152367.3(MAB21L3):c.293C>G (p.Thr98Ser)	MAB21L3 (T98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383409	NM_152367.3(MAB21L3):c.62G>A (p.Arg21His)	MAB21L3 (R21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380802	NM_152367.3(MAB21L3):c.626G>A (p.Arg209His)	MAB21L3 (R209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356715	NM_152367.3(MAB21L3):c.271C>T (p.Arg91Trp)	MAB21L3 (R91W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350582	NM_152367.3(MAB21L3):c.61C>T (p.Arg21Cys)	MAB21L3 (R21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320484	NM_152367.3(MAB21L3):c.314G>A (p.Arg105Gln)	MAB21L3 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272062	NM_152367.3(MAB21L3):c.233G>C (p.Gly78Ala)	MAB21L3 (G78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253374	NM_152367.3(MAB21L3):c.313C>G (p.Arg105Gly)	MAB21L3 (R105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217052	NM_152367.3(MAB21L3):c.505C>T (p.Arg169Cys)	MAB21L3 (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 565141	GRCh37/hg19 1p13.1(chr1:116510863-116863975)x1	MAB21L3, SLC22A15	Copy number loss	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441881	GRCh37/hg19 1p13.2-13.1(chr1:116065879-116693221)x3	CASQ2, LINC01649 +4 more	Copy number gain	See cases	GUncertain significance
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 31