PLEKHH2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 2291193	NM_172069.4(PLEKHH2):c.74T>A (p.Met25Lys)	PLEKHH2 (M25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307656	NM_172069.4(PLEKHH2):c.106G>C (p.Glu36Gln)	PLEKHH2 (E36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135698	NM_001101330.3(C1GALT1C1L):c.908C>T (p.Thr303Ile)	C1GALT1C1L, PLEKHH2 (T303I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276236	NM_001101330.3(C1GALT1C1L):c.874C>T (p.Arg292Trp)	C1GALT1C1L, PLEKHH2 (R292W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135697	NM_001101330.3(C1GALT1C1L):c.865G>C (p.Gly289Arg)	C1GALT1C1L, PLEKHH2 (G289R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350061	NM_001101330.3(C1GALT1C1L):c.748C>A (p.Gln250Lys)	C1GALT1C1L, PLEKHH2 (Q250K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361675	NM_001101330.3(C1GALT1C1L):c.745G>A (p.Ala249Thr)	C1GALT1C1L, PLEKHH2 (A249T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135696	NM_001101330.3(C1GALT1C1L):c.739C>A (p.Pro247Thr)	C1GALT1C1L, PLEKHH2 (P247T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337632	NM_001101330.3(C1GALT1C1L):c.733A>G (p.Thr245Ala)	C1GALT1C1L, PLEKHH2 (T245A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262367	NM_001101330.3(C1GALT1C1L):c.554T>C (p.Ile185Thr)	C1GALT1C1L, PLEKHH2 (I185T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270050	NM_001101330.3(C1GALT1C1L):c.535G>A (p.Val179Met)	C1GALT1C1L, PLEKHH2 (V179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135695	NM_001101330.3(C1GALT1C1L):c.529G>A (p.Glu177Lys)	C1GALT1C1L, PLEKHH2 (E177K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262368	NM_001101330.3(C1GALT1C1L):c.496T>C (p.Tyr166His)	C1GALT1C1L, PLEKHH2 (Y166H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135694	NM_001101330.3(C1GALT1C1L):c.452A>G (p.Asn151Ser)	C1GALT1C1L, PLEKHH2 (N151S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135693	NM_001101330.3(C1GALT1C1L):c.446T>C (p.Ile149Thr)	C1GALT1C1L, PLEKHH2 (I149T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267137	NM_001101330.3(C1GALT1C1L):c.436T>A (p.Phe146Ile)	C1GALT1C1L, PLEKHH2 (F146I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135691	NM_001101330.3(C1GALT1C1L):c.425T>G (p.Leu142Arg)	C1GALT1C1L, PLEKHH2 (L142R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135690	NM_001101330.3(C1GALT1C1L):c.418C>T (p.Leu140Phe)	C1GALT1C1L, PLEKHH2 (L140F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262364	NM_001101330.3(C1GALT1C1L):c.399C>A (p.Asp133Glu)	C1GALT1C1L, PLEKHH2 (D133E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297467	NM_001101330.3(C1GALT1C1L):c.371A>C (p.Tyr124Ser)	C1GALT1C1L, PLEKHH2 (Y124S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135688	NM_001101330.3(C1GALT1C1L):c.357G>C (p.Gln119His)	C1GALT1C1L, PLEKHH2 (Q119H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293295	NM_001101330.3(C1GALT1C1L):c.348G>C (p.Arg116Ser)	C1GALT1C1L, PLEKHH2 (R116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262365	NM_001101330.3(C1GALT1C1L):c.326T>C (p.Phe109Ser)	C1GALT1C1L, PLEKHH2 (F109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135687	NM_001101330.3(C1GALT1C1L):c.323T>C (p.Leu108Ser)	C1GALT1C1L, PLEKHH2 (L108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213085	NM_001101330.3(C1GALT1C1L):c.278A>G (p.Lys93Arg)	C1GALT1C1L, PLEKHH2 (K93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518968	NM_001101330.3(C1GALT1C1L):c.151A>C (p.Asn51His)	C1GALT1C1L, PLEKHH2 (N51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622245	NM_001101330.3(C1GALT1C1L):c.121G>C (p.Glu41Gln)	C1GALT1C1L, PLEKHH2 (E41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262366	NM_001101330.3(C1GALT1C1L):c.103G>A (p.Gly35Ser)	C1GALT1C1L, PLEKHH2 (G35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390273	NM_001101330.3(C1GALT1C1L):c.61G>A (p.Val21Ile)	C1GALT1C1L, PLEKHH2 (V21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135689	NM_001101330.3(C1GALT1C1L):c.37A>G (p.Met13Val)	C1GALT1C1L, PLEKHH2 (M13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394219	NM_001101330.3(C1GALT1C1L):c.30T>G (p.Phe10Leu)	C1GALT1C1L, PLEKHH2 (F10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404848	NM_001101330.3(C1GALT1C1L):c.17G>A (p.Gly6Glu)	C1GALT1C1L, PLEKHH2 (G6E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1710365	NM_172069.4(PLEKHH2):c.155C>G (p.Ala52Gly)	PLEKHH2 (A52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2596495	NM_172069.4(PLEKHH2):c.161G>A (p.Arg54His)	PLEKHH2 (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215078	NM_172069.4(PLEKHH2):c.184C>G (p.Gln62Glu)	PLEKHH2 (Q62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531759	NM_172069.4(PLEKHH2):c.185A>C (p.Gln62Pro)	PLEKHH2 (Q62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248341	NM_172069.4(PLEKHH2):c.200A>C (p.Glu67Ala)	PLEKHH2 (E67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307659	NM_172069.4(PLEKHH2):c.276G>C (p.Glu92Asp)	PLEKHH2 (E92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364588	NM_172069.4(PLEKHH2):c.277T>G (p.Ser93Ala)	PLEKHH2 (S93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409589	NM_172069.4(PLEKHH2):c.301G>A (p.Val101Ile)	PLEKHH2 (V101I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341513	NM_172069.4(PLEKHH2):c.322C>A (p.Gln108Lys)	PLEKHH2 (Q108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215088	NM_172069.4(PLEKHH2):c.359C>G (p.Ala120Gly)	PLEKHH2 (A120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215092	NM_172069.4(PLEKHH2):c.437A>G (p.Gln146Arg)	PLEKHH2 (Q146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215093	NM_172069.4(PLEKHH2):c.521C>T (p.Ser174Leu)	PLEKHH2 (S174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215094	NM_172069.4(PLEKHH2):c.548C>T (p.Ser183Leu)	PLEKHH2 (S183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215095	NM_172069.4(PLEKHH2):c.553G>C (p.Gly185Arg)	PLEKHH2 (G185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559830	NM_172069.4(PLEKHH2):c.599C>G (p.Ala200Gly)	PLEKHH2 (A200G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556644	NM_172069.4(PLEKHH2):c.620T>C (p.Val207Ala)	PLEKHH2 (V207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650859	NM_172069.4(PLEKHH2):c.651G>A (p.Ser217=)	PLEKHH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215096	NM_172069.4(PLEKHH2):c.869A>C (p.Glu290Ala)	PLEKHH2 (E290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530693	NM_172069.4(PLEKHH2):c.950G>A (p.Cys317Tyr)	PLEKHH2 (C317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373687	NM_172069.4(PLEKHH2):c.1003A>G (p.Ile335Val)	PLEKHH2 (I335V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541105	NM_172069.4(PLEKHH2):c.1013A>T (p.Glu338Val)	PLEKHH2 (E338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493955	NM_172069.4(PLEKHH2):c.1037C>A (p.Pro346Gln)	PLEKHH2 (P346Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473401	NM_172069.4(PLEKHH2):c.1050G>C (p.Lys350Asn)	PLEKHH2 (K350N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215074	NM_172069.4(PLEKHH2):c.1055A>G (p.Tyr352Cys)	PLEKHH2 (Y352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475239	NM_172069.4(PLEKHH2):c.1111A>G (p.Asn371Asp)	PLEKHH2 (N371D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266003	NM_172069.4(PLEKHH2):c.1124G>C (p.Ser375Thr)	PLEKHH2 (S375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215075	NM_172069.4(PLEKHH2):c.1156C>A (p.Leu386Met)	PLEKHH2 (L386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315724	NM_172069.4(PLEKHH2):c.1249C>T (p.Pro417Ser)	PLEKHH2 (P417S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473402	NM_172069.4(PLEKHH2):c.1370A>C (p.His457Pro)	PLEKHH2 (H457P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215076	NM_172069.4(PLEKHH2):c.1409G>A (p.Gly470Asp)	PLEKHH2 (G470D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215077	NM_172069.4(PLEKHH2):c.1423G>A (p.Ala475Thr)	PLEKHH2 (A475T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326060	NM_172069.4(PLEKHH2):c.1656C>A (p.Ser552Arg)	PLEKHH2 (S552R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219535	NM_172069.4(PLEKHH2):c.1757C>T (p.Ser586Leu)	PLEKHH2 (S586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307664	NM_172069.4(PLEKHH2):c.1886G>A (p.Ser629Asn)	PLEKHH2 (S629N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215079	NM_172069.4(PLEKHH2):c.1888T>G (p.Ser630Ala)	PLEKHH2 (S630A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283451	NM_172069.4(PLEKHH2):c.1898G>C (p.Ser633Thr)	PLEKHH2 (S633T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212396	NM_172069.4(PLEKHH2):c.1903C>T (p.Arg635Trp)	PLEKHH2 (R635W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307655	NM_172069.4(PLEKHH2):c.1904G>A (p.Arg635Gln)	PLEKHH2 (R635Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331884	NM_172069.4(PLEKHH2):c.1931G>A (p.Arg644Lys)	PLEKHH2 (R644K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331885	NM_172069.4(PLEKHH2):c.1932G>T (p.Arg644Ser)	PLEKHH2 (R644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592609	NM_172069.4(PLEKHH2):c.1934G>C (p.Ser645Thr)	PLEKHH2 (S645T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620797	NM_172069.4(PLEKHH2):c.1946G>A (p.Ser649Asn)	PLEKHH2 (S649N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215080	NM_172069.4(PLEKHH2):c.1975C>T (p.Leu659Phe)	PLEKHH2 (L659F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387949	NM_172069.4(PLEKHH2):c.2008A>G (p.Ile670Val)	PLEKHH2 (I670V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402666	NM_172069.4(PLEKHH2):c.2036C>T (p.Thr679Met)	PLEKHH2 (T679M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307658	NM_172069.4(PLEKHH2):c.2150T>C (p.Val717Ala)	PLEKHH2 (V717A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215082	NM_172069.4(PLEKHH2):c.2179C>G (p.Leu727Val)	PLEKHH2 (L727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215083	NM_172069.4(PLEKHH2):c.2180T>C (p.Leu727Pro)	PLEKHH2 (L727P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474499	NM_172069.4(PLEKHH2):c.2182A>G (p.Lys728Glu)	PLEKHH2 (K728E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396504	NM_172069.4(PLEKHH2):c.2183A>T (p.Lys728Ile)	PLEKHH2 (K728I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2800800	NM_172069.4(PLEKHH2):c.2301+33dup	PLEKHH2	Duplication (intron variant)	not provided	GBenign
Select item 3215084	NM_172069.4(PLEKHH2):c.2405A>G (p.Asn802Ser)	PLEKHH2 (N802S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479167	NM_172069.4(PLEKHH2):c.2414C>T (p.Ser805Phe)	PLEKHH2 (S805F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307657	NM_172069.4(PLEKHH2):c.2425G>A (p.Glu809Lys)	PLEKHH2 (E809K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257607	NM_172069.4(PLEKHH2):c.2456C>G (p.Thr819Ser)	PLEKHH2 (T819S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526553	NM_172069.4(PLEKHH2):c.2588T>C (p.Val863Ala)	PLEKHH2 (V863A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215085	NM_172069.4(PLEKHH2):c.2633G>T (p.Arg878Leu)	PLEKHH2 (R878L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395621	NM_172069.4(PLEKHH2):c.2662G>A (p.Val888Ile)	PLEKHH2 (V888I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550420	NM_172069.4(PLEKHH2):c.2735A>G (p.Tyr912Cys)	PLEKHH2 (Y912C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307660	NM_172069.4(PLEKHH2):c.2764A>G (p.Asn922Asp)	PLEKHH2 (N922D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307663	NM_172069.4(PLEKHH2):c.2773G>A (p.Val925Ile)	PLEKHH2 (V925I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215086	NM_172069.4(PLEKHH2):c.2812A>T (p.Asn938Tyr)	PLEKHH2 (N938Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307666	NM_172069.4(PLEKHH2):c.3205A>G (p.Arg1069Gly)	PLEKHH2 (R1069G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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