PLEKHO2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 151181	GRCh38/hg38 15q22.31(chr15:64671902-65034346)x1	ANKDD1A, LOC125078103 +34 more	Copy number loss	See cases	GUncertain significance
Select item 2592645	NM_025201.5(PLEKHO2):c.28G>A (p.Gly10Ser)	PLEKHO2 (G10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215201	NM_025201.5(PLEKHO2):c.34A>C (p.Lys12Gln)	PLEKHO2 (K12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397190	NM_025201.5(PLEKHO2):c.152A>G (p.Tyr51Cys)	PLEKHO2 (Y51C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380237	NM_025201.5(PLEKHO2):c.158A>G (p.Asn53Ser)	PLEKHO2 (N53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645446	NM_025201.5(PLEKHO2):c.163-4C>G	PLEKHO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2225452	NM_025201.5(PLEKHO2):c.176G>A (p.Cys59Tyr)	PLEKHO2 (C59Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337364	NM_025201.5(PLEKHO2):c.192G>C (p.Glu64Asp)	PLEKHO2 (E64D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215200	NM_025201.5(PLEKHO2):c.203A>G (p.Tyr68Cys)	PLEKHO2 (Y68C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326787	NM_025201.5(PLEKHO2):c.232C>T (p.Leu78Phe)	PLEKHO2 (L28F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353653	NM_025201.5(PLEKHO2):c.248G>A (p.Arg83His)	PLEKHO2 (R33H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307717	NM_025201.5(PLEKHO2):c.254T>G (p.Ile85Ser)	PLEKHO2 (I35S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275582	NM_025201.5(PLEKHO2):c.302C>G (p.Ala101Gly)	PLEKHO2 (A101G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609105	NM_025201.5(PLEKHO2):c.394G>A (p.Asp132Asn)	PLEKHO2 (D132N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274622	NM_025201.5(PLEKHO2):c.437G>T (p.Arg146Leu)	PLEKHO2 (R146L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215202	NM_025201.5(PLEKHO2):c.492T>A (p.Ser164Arg)	PLEKHO2 (S164R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215203	NM_025201.5(PLEKHO2):c.514C>T (p.Arg172Cys)	PLEKHO2 (R122C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532118	NM_025201.5(PLEKHO2):c.560C>A (p.Pro187His)	PLEKHO2 (P137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309050	NM_025201.5(PLEKHO2):c.580G>T (p.Ala194Ser)	PLEKHO2 (A194S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552836	NM_025201.5(PLEKHO2):c.644C>T (p.Thr215Ile)	PLEKHO2 (T215I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228074	NM_025201.5(PLEKHO2):c.664G>A (p.Val222Met)	PLEKHO2 (V222M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216632	NM_025201.5(PLEKHO2):c.722C>G (p.Ser241Cys)	PLEKHO2 (S191C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240838	NM_025201.5(PLEKHO2):c.793G>T (p.Val265Phe)	PLEKHO2 (V215F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380092	NM_025201.5(PLEKHO2):c.869C>T (p.Pro290Leu)	PLEKHO2 (P290L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621380	NM_025201.5(PLEKHO2):c.872C>T (p.Ser291Phe)	PLEKHO2 (S241F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380677	NM_025201.5(PLEKHO2):c.915G>C (p.Glu305Asp)	PLEKHO2 (E255D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204885	NM_025201.5(PLEKHO2):c.923A>C (p.Lys308Thr)	PLEKHO2 (K308T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215520	NM_025201.5(PLEKHO2):c.926C>T (p.Pro309Leu)	PLEKHO2 (P259L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406161	NM_025201.5(PLEKHO2):c.1058C>T (p.Ala353Val)	PLEKHO2 (A353V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234011	NM_025201.5(PLEKHO2):c.1117A>G (p.Thr373Ala)	PLEKHO2 (T373A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341959	NM_025201.5(PLEKHO2):c.1129C>T (p.Pro377Ser)	PLEKHO2 (P327S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322600	NM_025201.5(PLEKHO2):c.1130C>G (p.Pro377Arg)	PLEKHO2 (P377R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291489	NM_025201.5(PLEKHO2):c.1141C>G (p.Pro381Ala)	PLEKHO2 (P381A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376073	NM_025201.5(PLEKHO2):c.1153C>G (p.His385Asp)	PLEKHO2 (H335D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291375	NM_025201.5(PLEKHO2):c.1154A>T (p.His385Leu)	PLEKHO2 (H335L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562237	NM_025201.5(PLEKHO2):c.1198C>T (p.Arg400Trp)	PLEKHO2 (R400W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215194	NM_025201.5(PLEKHO2):c.1246G>C (p.Val416Leu)	PLEKHO2 (V416L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378865	NM_025201.5(PLEKHO2):c.1267A>G (p.Thr423Ala)	PLEKHO2 (T373A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332160	NM_025201.5(PLEKHO2):c.1268C>T (p.Thr423Met)	PLEKHO2 (T373M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462044	NM_025201.5(PLEKHO2):c.1273A>G (p.Lys425Glu)	PLEKHO2 (K375E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215195	NM_025201.5(PLEKHO2):c.1287G>C (p.Lys429Asn)	PLEKHO2 (K379N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304731	NM_025201.5(PLEKHO2):c.1306G>T (p.Ala436Ser)	PLEKHO2 (A386S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542287	NM_025201.5(PLEKHO2):c.1307C>T (p.Ala436Val)	PLEKHO2 (A436V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215196	NM_025201.5(PLEKHO2):c.1321G>A (p.Glu441Lys)	PLEKHO2 (E391K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215197	NM_025201.5(PLEKHO2):c.1325C>G (p.Thr442Arg)	PLEKHO2 (T392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215198	NM_025201.5(PLEKHO2):c.1334G>T (p.Ser445Ile)	PLEKHO2 (S395I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244548	NM_025201.5(PLEKHO2):c.1358A>C (p.Gln453Pro)	PLEKHO2 (Q403P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 980529	GRCh37/hg19 15q22.31(chr15:64705736-65178188)x3	TRIP4, OAZ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253982	GRCh37/hg19 15q22.31(chr15:64673133-65273595)x3	RBPMS2, ZNF609 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 61