ClinVar for Gene (Select 117245) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307245	NM_001146729.2(PLAAT5):c.452C>A (p.Pro151Gln)	PLAAT5 (P151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307244	NM_001146729.2(PLAAT5):c.703C>T (p.Pro235Ser)	PLAAT5 (P245S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214270	NM_001146729.2(PLAAT5):c.763A>G (p.Ile255Val)	PLAAT5 (I255V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214269	NM_001146729.2(PLAAT5):c.707G>A (p.Arg236Gln)	PLAAT5 (R236Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214268	NM_001146729.2(PLAAT5):c.500G>A (p.Arg167Gln)	PLAAT5 (R167Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214267	NM_001146729.2(PLAAT5):c.398A>G (p.Tyr133Cys)	PLAAT5 (Y133C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214266	NM_001146729.2(PLAAT5):c.377T>A (p.Ile126Asn)	PLAAT5 (I136N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214265	NM_001146729.2(PLAAT5):c.29A>T (p.Glu10Val)	PLAAT5 (E10V)	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 2613080	NM_001146729.2(PLAAT5):c.383T>G (p.Ile128Ser)	PLAAT5 (I128S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611166	NM_001146729.2(PLAAT5):c.276C>A (p.Ser92Arg)	PLAAT5 (S102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591240	NM_001146729.2(PLAAT5):c.392T>C (p.Ile131Thr)	PLAAT5 (I131T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588393	NM_001146729.2(PLAAT5):c.499C>T (p.Arg167Trp)	PLAAT5 (R167W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543179	NM_001146729.2(PLAAT5):c.72A>C (p.Lys24Asn)	PLAAT5 (K24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507991	NM_001146729.2(PLAAT5):c.728C>A (p.Ala243Asp)	PLAAT5 (A243D +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2468506	NM_001146729.2(PLAAT5):c.4G>A (p.Gly2Ser)	PLAAT5 (G2S)	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	AQP11, CABP4 +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)	GAL3ST3, GALNT18 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	MRGPRX3, MRGPRX4 +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: 26