ClinVar for Gene (Select 11145) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307243	NM_001128203.2(PLAAT3):c.153G>A (p.Met51Ile)	PLAAT3 (M51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307242	NM_001128203.2(PLAAT3):c.409G>C (p.Ala137Pro)	PLAAT3 (A137P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214254	NM_001128203.2(PLAAT3):c.53G>A (p.Arg18His)	PLAAT3 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214253	NM_001128203.2(PLAAT3):c.476G>A (p.Arg159Gln)	PLAAT3 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214252	NM_001128203.2(PLAAT3):c.450T>G (p.Ile150Met)	PLAAT3 (I150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214251	NM_001128203.2(PLAAT3):c.425T>C (p.Met142Thr)	PLAAT3 (M142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214250	NM_001128203.2(PLAAT3):c.410C>T (p.Ala137Val)	PLAAT3 (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214249	NM_001128203.2(PLAAT3):c.361C>T (p.Arg121Cys)	PLAAT3 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214248	NM_001128203.2(PLAAT3):c.328A>G (p.Ser110Gly)	PLAAT3 (S110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214247	NM_001128203.2(PLAAT3):c.319A>G (p.Lys107Glu)	PLAAT3 (K107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214246	NM_001128203.2(PLAAT3):c.28C>A (p.Pro10Thr)	PLAAT3 (P10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214245	NM_001128203.2(PLAAT3):c.254C>T (p.Ser85Leu)	PLAAT3 (S85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214244	NM_001128203.2(PLAAT3):c.209G>T (p.Gly70Val)	PLAAT3 (G70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214243	NM_001128203.2(PLAAT3):c.133G>A (p.Ala45Thr)	PLAAT3 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214242	NM_001128203.2(PLAAT3):c.127G>A (p.Ala43Thr)	PLAAT3 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214241	NM_001128203.2(PLAAT3):c.125T>C (p.Val42Ala)	PLAAT3 (V42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2691742	NM_001128203.2(PLAAT3):c.339C>A (p.Cys113Ter)	PLAAT3 (C113*)	Single nucleotide variant (nonsense)	Lipodystrophy, familial partial, type 9	GPathogenic
Select item 2691741	NM_001128203.2(PLAAT3):c.286dup (p.Ala96fs)	PLAAT3 (A96fs)	Duplication (frameshift variant)	Lipodystrophy, familial partial, type 9	GPathogenic
Select item 2691740	NM_001128203.2(PLAAT3):c.16-4823_118+167del	PLAAT3	Deletion (splice acceptor variant +1 more)	Lipodystrophy, familial partial, type 9	GPathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2598486	NM_001128203.2(PLAAT3):c.396T>A (p.Asp132Glu)	PLAAT3 (D132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552052	NM_001128203.2(PLAAT3):c.406G>A (p.Ala136Thr)	PLAAT3 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531928	NM_001128203.2(PLAAT3):c.88G>A (p.Asp30Asn)	PLAAT3 (D30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492912	NM_001128203.2(PLAAT3):c.157G>A (p.Ala53Thr)	PLAAT3 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980955	GRCh37/hg19 11q12.3(chr11:62714816-63383226)x3	LGALS12, SLC22A9 +9 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253837	GRCh37/hg19 11q12.3(chr11:63230830-63342467)x3	PLAAT3, PLAAT5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 34