PLAAT4[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2456906	NM_004585.5(PLAAT4):c.53G>A (p.Arg18His)	PLAAT4 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214256	NM_004585.5(PLAAT4):c.130G>A (p.Gly44Arg)	PLAAT4 (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460740	NM_004585.5(PLAAT4):c.190C>T (p.Arg64Cys)	PLAAT4 (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555091	NM_004585.5(PLAAT4):c.191G>A (p.Arg64His)	PLAAT4 (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214258	NM_004585.5(PLAAT4):c.224G>C (p.Arg75Pro)	PLAAT4 (R75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214257	NM_004585.5(PLAAT4):c.224G>A (p.Arg75Gln)	PLAAT4 (R75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 798040	NM_004585.5(PLAAT4):c.255del (p.Gln85fs)	PLAAT4 (Q85fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3214259	NM_004585.5(PLAAT4):c.259C>T (p.Arg87Trp)	PLAAT4 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593221	NM_004585.5(PLAAT4):c.265G>C (p.Val89Leu)	PLAAT4 (V89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214260	NM_004585.5(PLAAT4):c.297G>T (p.Met99Ile)	PLAAT4 (M99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214261	NM_004585.5(PLAAT4):c.373T>G (p.Ser125Ala)	PLAAT4 (S125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214262	NM_004585.5(PLAAT4):c.377G>A (p.Arg126His)	PLAAT4 (R126H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214263	NM_004585.5(PLAAT4):c.415G>T (p.Val139Leu)	LOC126861230, PLAAT4 (V139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214264	NM_004585.5(PLAAT4):c.451T>A (p.Cys151Ser)	LOC126861230, PLAAT4 (C151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468480	NM_004585.5(PLAAT4):c.451T>G (p.Cys151Gly)	LOC126861230, PLAAT4 (C151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619106	NM_004585.5(PLAAT4):c.459T>G (p.Phe153Leu)	LOC126861230, PLAAT4 (F153L)	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 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
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

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Items: 27