PLEKHH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 2487915	NM_020715.3(PLEKHH1):c.8A>T (p.Glu3Val)	GPHN, PLEKHH1 (E3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331548	NM_020715.3(PLEKHH1):c.73C>T (p.Leu25Phe)	GPHN, PLEKHH1 (L25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344101	NM_020715.3(PLEKHH1):c.259C>T (p.Arg87Trp)	GPHN, LOC126861971 +1 more (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215055	NM_020715.3(PLEKHH1):c.292G>C (p.Gly98Arg)	GPHN, LOC126861971 +1 more (G98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591213	NM_020715.3(PLEKHH1):c.292G>A (p.Gly98Ser)	GPHN, LOC126861971 +1 more (G98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591777	NM_020715.3(PLEKHH1):c.418G>A (p.Ala140Thr)	GPHN, PLEKHH1 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318352	NM_020715.3(PLEKHH1):c.542C>T (p.Pro181Leu)	GPHN, PLEKHH1 (P181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613332	NM_020715.3(PLEKHH1):c.548A>G (p.Tyr183Cys)	GPHN, PLEKHH1 (Y183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215066	NM_020715.3(PLEKHH1):c.554C>A (p.Ala185Asp)	GPHN, PLEKHH1 (A185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476287	NM_020715.3(PLEKHH1):c.596C>T (p.Pro199Leu)	GPHN, PLEKHH1 (P199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215067	NM_020715.3(PLEKHH1):c.599T>C (p.Met200Thr)	GPHN, PLEKHH1 (M200T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215068	NM_020715.3(PLEKHH1):c.616T>A (p.Ser206Thr)	GPHN, PLEKHH1 (S206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552054	NM_020715.3(PLEKHH1):c.739G>A (p.Gly247Arg)	GPHN, PLEKHH1 (G247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394731	NM_020715.3(PLEKHH1):c.784G>C (p.Glu262Gln)	GPHN, PLEKHH1 (E262Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473461	NM_020715.3(PLEKHH1):c.814C>A (p.Leu272Ile)	GPHN, PLEKHH1 (L272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527692	NM_020715.3(PLEKHH1):c.827G>A (p.Arg276Lys)	GPHN, PLEKHH1 (R276K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234722	NM_020715.3(PLEKHH1):c.830G>A (p.Cys277Tyr)	GPHN, PLEKHH1 (C277Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2206338	NM_020715.3(PLEKHH1):c.883C>T (p.Pro295Ser)	GPHN, PLEKHH1 (P295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215069	NM_020715.3(PLEKHH1):c.932C>A (p.Thr311Asn)	GPHN, PLEKHH1 (T311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215072	NM_020715.3(PLEKHH1):c.938C>T (p.Pro313Leu)	GPHN, PLEKHH1 (P313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215073	NM_020715.3(PLEKHH1):c.962C>T (p.Pro321Leu)	GPHN, PLEKHH1 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224690	NM_020715.3(PLEKHH1):c.964C>T (p.Arg322Trp)	GPHN, PLEKHH1 (R322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461285	NM_020715.3(PLEKHH1):c.968A>T (p.Asp323Val)	GPHN, PLEKHH1 (D323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215041	NM_020715.3(PLEKHH1):c.1030C>T (p.Arg344Cys)	GPHN, PLEKHH1 (R344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518991	NM_020715.3(PLEKHH1):c.1111C>T (p.Arg371Trp)	GPHN, PLEKHH1 (R371W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284952	NM_020715.3(PLEKHH1):c.1127A>G (p.Lys376Arg)	GPHN, PLEKHH1 (K376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386951	NM_020715.3(PLEKHH1):c.1292C>T (p.Ser431Leu)	GPHN, PLEKHH1 (S431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215042	NM_020715.3(PLEKHH1):c.1300C>T (p.Arg434Trp)	GPHN, PLEKHH1 (R434W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491485	NM_020715.3(PLEKHH1):c.1421C>A (p.Thr474Lys)	GPHN, PLEKHH1 (T474K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459511	NM_020715.3(PLEKHH1):c.1432G>C (p.Gly478Arg)	GPHN, PLEKHH1 (G478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215043	NM_020715.3(PLEKHH1):c.1511G>C (p.Ser504Thr)	GPHN, PLEKHH1 (S504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215044	NM_020715.3(PLEKHH1):c.1556G>A (p.Gly519Glu)	GPHN, PLEKHH1 (G519E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323757	NM_020715.3(PLEKHH1):c.1580A>G (p.Lys527Arg)	GPHN, PLEKHH1 (K527R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215045	NM_020715.3(PLEKHH1):c.1675C>T (p.His559Tyr)	GPHN, PLEKHH1 (H559Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542894	NM_020715.3(PLEKHH1):c.1708G>A (p.Asp570Asn)	GPHN, PLEKHH1 (D570N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215046	NM_020715.3(PLEKHH1):c.1774G>A (p.Val592Met)	GPHN, PLEKHH1 (V592M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375060	NM_020715.3(PLEKHH1):c.1838C>T (p.Pro613Leu)	GPHN, PLEKHH1 (P613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215047	NM_020715.3(PLEKHH1):c.1844A>G (p.Asp615Gly)	GPHN, PLEKHH1 (D615G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291605	NM_020715.3(PLEKHH1):c.1863A>C (p.Gln621His)	GPHN, PLEKHH1 (Q621H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473072	NM_020715.3(PLEKHH1):c.1885C>T (p.Arg629Cys)	GPHN, PLEKHH1 (R629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229882	NM_020715.3(PLEKHH1):c.1895T>C (p.Ile632Thr)	GPHN, PLEKHH1 (I632T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609766	NM_020715.3(PLEKHH1):c.1901G>T (p.Arg634Leu)	GPHN, PLEKHH1 (R634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215048	NM_020715.3(PLEKHH1):c.1909G>A (p.Gly637Ser)	GPHN, PLEKHH1 (G637S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335381	NM_020715.3(PLEKHH1):c.1984G>C (p.Glu662Gln)	GPHN, PLEKHH1 (E662Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331355	NM_020715.3(PLEKHH1):c.2011C>G (p.Leu671Val)	GPHN, PLEKHH1 (L671V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463736	NM_020715.3(PLEKHH1):c.2051G>A (p.Gly684Asp)	GPHN, PLEKHH1 (G684D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215049	NM_020715.3(PLEKHH1):c.2131G>A (p.Gly711Arg)	GPHN, PLEKHH1 (G711R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239116	NM_020715.3(PLEKHH1):c.2131G>T (p.Gly711Trp)	GPHN, PLEKHH1 (G711W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215050	NM_020715.3(PLEKHH1):c.2174C>T (p.Pro725Leu)	GPHN, PLEKHH1 (P725L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234165	NM_020715.3(PLEKHH1):c.2195G>A (p.Arg732Gln)	GPHN, PLEKHH1 (R732Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2481723	NM_020715.3(PLEKHH1):c.2243A>G (p.Asp748Gly)	GPHN, PLEKHH1 (D748G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252319	NM_020715.3(PLEKHH1):c.2386G>C (p.Gly796Arg)	GPHN, PLEKHH1 (G796R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215051	NM_020715.3(PLEKHH1):c.2402A>C (p.Lys801Thr)	GPHN, PLEKHH1 (K801T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458225	NM_020715.3(PLEKHH1):c.2465C>T (p.Ser822Leu)	GPHN, PLEKHH1 (S822L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215052	NM_020715.3(PLEKHH1):c.2468C>T (p.Pro823Leu)	GPHN, PLEKHH1 (P823L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549258	NM_020715.3(PLEKHH1):c.2485A>G (p.Met829Val)	GPHN, PLEKHH1 (M829V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349040	NM_020715.3(PLEKHH1):c.2506G>A (p.Gly836Ser)	GPHN, PLEKHH1 (G836S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215053	NM_020715.3(PLEKHH1):c.2647G>T (p.Ala883Ser)	GPHN, PLEKHH1 (A883S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224784	NM_020715.3(PLEKHH1):c.2647G>A (p.Ala883Thr)	GPHN, PLEKHH1 (A883T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329167	NM_020715.3(PLEKHH1):c.2651T>C (p.Leu884Pro)	GPHN, PLEKHH1 (L884P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272213	NM_020715.3(PLEKHH1):c.2682G>T (p.Gln894His)	GPHN, PLEKHH1 (Q894H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644332	NM_020715.3(PLEKHH1):c.2760G>A (p.Gln920=)	GPHN, PLEKHH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2408182	NM_020715.3(PLEKHH1):c.2897G>A (p.Arg966Gln)	GPHN, PLEKHH1 (R966Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473729	NM_020715.3(PLEKHH1):c.2906G>A (p.Arg969Gln)	GPHN, PLEKHH1 (R969Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215054	NM_020715.3(PLEKHH1):c.2909C>A (p.Thr970Asn)	GPHN, PLEKHH1 (T970N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539125	NM_020715.3(PLEKHH1):c.2918G>A (p.Arg973Gln)	GPHN, PLEKHH1 (R973Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465338	NM_020715.3(PLEKHH1):c.3046T>C (p.Ser1016Pro)	GPHN, PLEKHH1 (S1016P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352491	NM_020715.3(PLEKHH1):c.3053C>T (p.Thr1018Met)	GPHN, PLEKHH1 (T1018M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213341	NM_020715.3(PLEKHH1):c.3073C>T (p.Arg1025Trp)	GPHN, PLEKHH1 (R1025W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353511	NM_020715.3(PLEKHH1):c.3089T>C (p.Ile1030Thr)	GPHN, PLEKHH1 (I1030T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215056	NM_020715.3(PLEKHH1):c.3102G>T (p.Lys1034Asn)	GPHN, PLEKHH1 (K1034N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562743	NM_020715.3(PLEKHH1):c.3146G>C (p.Gly1049Ala)	GPHN, PLEKHH1 (G1049A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215058	NM_020715.3(PLEKHH1):c.3161A>G (p.His1054Arg)	GPHN, PLEKHH1 (H1054R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215059	NM_020715.3(PLEKHH1):c.3235G>A (p.Gly1079Arg)	GPHN, PLEKHH1 (G1079R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215060	NM_020715.3(PLEKHH1):c.3256C>T (p.Arg1086Cys)	GPHN, PLEKHH1 (R1086C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215061	NM_020715.3(PLEKHH1):c.3257G>A (p.Arg1086His)	GPHN, PLEKHH1 (R1086H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215062	NM_020715.3(PLEKHH1):c.3274T>G (p.Tyr1092Asp)	GPHN, PLEKHH1 (Y1092D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281323	NM_020715.3(PLEKHH1):c.3304G>A (p.Val1102Ile)	GPHN, PLEKHH1 (V1102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339498	NM_020715.3(PLEKHH1):c.3350C>G (p.Thr1117Ser)	GPHN, PLEKHH1 (T1117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215063	NM_020715.3(PLEKHH1):c.3478T>A (p.Ser1160Thr)	GPHN, PLEKHH1 (S1160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352379	NM_020715.3(PLEKHH1):c.3536G>A (p.Arg1179His)	PLEKHH1, GPHN (R1179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215064	NM_020715.3(PLEKHH1):c.3637C>T (p.Arg1213Cys)	GPHN, PLEKHH1 (R1213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588103	NM_020715.3(PLEKHH1):c.3779A>C (p.Asn1260Thr)	GPHN, PLEKHH1 (N1260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607646	NM_020715.3(PLEKHH1):c.3782C>T (p.Thr1261Ile)	PLEKHH1, GPHN (T1261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358542	NM_020715.3(PLEKHH1):c.3824C>T (p.Thr1275Met)	GPHN, PLEKHH1 (T1275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260960	NM_020715.3(PLEKHH1):c.3849C>A (p.Phe1283Leu)	GPHN, PLEKHH1 (F1283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323267	NM_020715.3(PLEKHH1):c.4031A>G (p.Glu1344Gly)	GPHN, PLEKHH1 (E1344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774936	NM_020715.3(PLEKHH1):c.4042C>T (p.Arg1348Ter)	GPHN, PLEKHH1 (R1348*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3063326	GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684732	GRCh37/hg19 14q24.1(chr14:67906151-68183185)x3	ARG2, PIGH +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684729	GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3	ARG2, ATP6V1D +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527823	GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1015841	NC_000014.8:g.(?_65937790)_(68354021_?)dup	RAD51B, RDH11 +14 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 815670	GRCh37/hg19 14q24.1(chr14:68037409-68278365)x3	VTI1B, RDH12 +5 more	Copy number gain	not provided	GUncertain significance

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