MAB21L3[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 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
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 2350582	NM_152367.3(MAB21L3):c.61C>T (p.Arg21Cys)	MAB21L3 (R21C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383409	NM_152367.3(MAB21L3):c.62G>A (p.Arg21His)	MAB21L3 (R21H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272062	NM_152367.3(MAB21L3):c.233G>C (p.Gly78Ala)	MAB21L3 (G78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356715	NM_152367.3(MAB21L3):c.271C>T (p.Arg91Trp)	MAB21L3 (R91W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406117	NM_152367.3(MAB21L3):c.293C>G (p.Thr98Ser)	MAB21L3 (T98S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253374	NM_152367.3(MAB21L3):c.313C>G (p.Arg105Gly)	MAB21L3 (R105G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320484	NM_152367.3(MAB21L3):c.314G>A (p.Arg105Gln)	MAB21L3 (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639013	NM_152367.3(MAB21L3):c.348G>A (p.Val116=)	MAB21L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411894	NM_152367.3(MAB21L3):c.422A>C (p.Lys141Thr)	MAB21L3 (K141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559806	NM_152367.3(MAB21L3):c.433G>A (p.Val145Met)	MAB21L3 (V145M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217052	NM_152367.3(MAB21L3):c.505C>T (p.Arg169Cys)	MAB21L3 (R169C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380802	NM_152367.3(MAB21L3):c.626G>A (p.Arg209His)	MAB21L3 (R209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540796	NM_152367.3(MAB21L3):c.755A>G (p.Asp252Gly)	MAB21L3 (D252G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2423983	NC_000001.10:g.(?_116310909)_(116947066_?)dup	ATP1A1, CASQ2 +4 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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

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Items: 25