PLEKHB1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58165	GRCh38/hg38 11q13.4(chr11:73403238-73935284)x3	COA4, FAM168A +20 more	Copy number gain	See cases	GUncertain significance
Select item 144545	GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3	C2CD3, COA4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58182	GRCh38/hg38 11q13.4(chr11:73647348-73927680)x3	COA4, LOC116216151 +15 more	Copy number gain	See cases	GUncertain significance
Select item 3307532	NM_021200.3(PLEKHB1):c.28G>T (p.Asp10Tyr)	PLEKHB1 (D10Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560807	NM_021200.3(PLEKHB1):c.76G>A (p.Gly26Ser)	PLEKHB1 (G26S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458907	NM_021200.3(PLEKHB1):c.118C>T (p.Arg40Trp)	PLEKHB1 (R21W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214848	NM_021200.3(PLEKHB1):c.155G>C (p.Gly52Ala)	PLEKHB1 (G52A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389940	NM_021200.3(PLEKHB1):c.184G>A (p.Glu62Lys)	PLEKHB1 (E43K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607248	NM_021200.3(PLEKHB1):c.222C>A (p.Asp74Glu)	PLEKHB1 (D74E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287197	NM_021200.3(PLEKHB1):c.386C>T (p.Thr129Ile)	PLEKHB1 (T110I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352920	NM_021200.3(PLEKHB1):c.394C>T (p.Pro132Ser)	PLEKHB1 (P113S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544221	NM_021200.3(PLEKHB1):c.403G>A (p.Ala135Thr)	PLEKHB1 (A116T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214849	NM_021200.3(PLEKHB1):c.425G>T (p.Arg142Leu)	PLEKHB1 (R123L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214850	NM_021200.3(PLEKHB1):c.427C>T (p.Arg143Trp)	PLEKHB1 (R143W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589635	NM_021200.3(PLEKHB1):c.502G>A (p.Val168Ile)	PLEKHB1 (V133I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214851	NM_021200.3(PLEKHB1):c.512C>A (p.Pro171Gln)	PLEKHB1 (P117Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530218	NM_021200.3(PLEKHB1):c.523T>C (p.Tyr175His)	PLEKHB1 (Y156H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317561	NM_021200.3(PLEKHB1):c.529G>A (p.Glu177Lys)	PLEKHB1 (E142K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307531	NM_021200.3(PLEKHB1):c.586C>T (p.Pro196Ser)	PLEKHB1 (P142S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307530	NM_021200.3(PLEKHB1):c.590A>G (p.Tyr197Cys)	PLEKHB1 (Y162C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269928	NM_021200.3(PLEKHB1):c.604G>A (p.Val202Met)	PLEKHB1 (V167M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357507	NM_021200.3(PLEKHB1):c.617T>G (p.Ile206Arg)	PLEKHB1 (I187R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214852	NM_021200.3(PLEKHB1):c.640A>G (p.Ser214Gly)	PLEKHB1 (S160G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375173	NM_021200.3(PLEKHB1):c.640A>C (p.Ser214Arg)	PLEKHB1 (S214R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214853	NM_021200.3(PLEKHB1):c.685A>G (p.Thr229Ala)	PLEKHB1 (T210A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
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 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	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 1527649	GRCh37/hg19 11q13.4(chr11:73323208-73593392)	COA4, MRPL48 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1340460	GRCh37/hg19 11q13.4(chr11:73149024-73572314)x3	FAM168A, MRPL48 +2 more	Copy number gain	not provided	GLikely benign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815440	GRCh37/hg19 11q13.4(chr11:73314584-73658201)x3	COA4, RAB6A +3 more	Copy number gain	not provided	GUncertain significance
Select item 686083	GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4	C2CD3, COA4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563850	GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3	COA4, UCP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563843	GRCh37/hg19 11q13.4(chr11:73276899-73615810)x3	PLEKHB1, RAB6A +4 more	Copy number gain	not provided	GLikely benign
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 394189	GRCh37/hg19 11q13.4(chr11:73197127-73712308)x3	UCP3, COA4 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 42