PLEKHA1[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 2260725	NM_001001974.4(PLEKHA1):c.118G>A (p.Val40Met)	PLEKHA1 (V40M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2325927	NM_001001974.4(PLEKHA1):c.197A>C (p.Lys66Thr)	PLEKHA1 (S48R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406435	NM_001001974.4(PLEKHA1):c.199G>A (p.Val67Ile)	PLEKHA1 (V67I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214743	NM_001001974.4(PLEKHA1):c.284A>G (p.Asn95Ser)	PLEKHA1 (N53S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211096	NM_001001974.4(PLEKHA1):c.289C>G (p.Gln97Glu)	PLEKHA1 (Q55E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1238542	NM_001001974.4(PLEKHA1):c.342+1323C>T	PLEKHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2223190	NM_001001974.4(PLEKHA1):c.370A>C (p.Asn124His)	PLEKHA1 (N121H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340189	NM_001001974.4(PLEKHA1):c.381C>A (p.Asn127Lys)	PLEKHA1 (N107K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400875	NM_001001974.4(PLEKHA1):c.388C>T (p.Arg130Cys)	PLEKHA1 (R130C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321811	NM_001001974.4(PLEKHA1):c.388C>G (p.Arg130Gly)	PLEKHA1 (R130G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330167	NM_001001974.4(PLEKHA1):c.411G>C (p.Lys137Asn)	PLEKHA1 (K126N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640903	NM_001001974.4(PLEKHA1):c.467A>G (p.Gln156Arg)	PLEKHA1 (Q108R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2551358	NM_001001974.4(PLEKHA1):c.634T>C (p.Tyr212His)	PLEKHA1 (Y164H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779937	NM_001001974.4(PLEKHA1):c.682-5G>T	PLEKHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2332407	NM_001001974.4(PLEKHA1):c.697C>G (p.Arg233Gly)	PLEKHA1 (R222G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307476	NM_001001974.4(PLEKHA1):c.700G>A (p.Val234Ile)	PLEKHA1 (V186I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362364	NM_001001974.4(PLEKHA1):c.788C>T (p.Thr263Met)	PLEKHA1 (T243M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3307478	NM_001001974.4(PLEKHA1):c.803A>T (p.Tyr268Phe)	PLEKHA1 (Y226F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316250	NM_001001974.4(PLEKHA1):c.811G>T (p.Ala271Ser)	PLEKHA1 (A229S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496358	NM_001001974.4(PLEKHA1):c.883G>A (p.Gly295Ser)	PLEKHA1 (G253S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214745	NM_001001974.4(PLEKHA1):c.898T>G (p.Ser300Ala)	PLEKHA1 (S289A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343201	NM_001001974.4(PLEKHA1):c.931C>T (p.His311Tyr)	PLEKHA1 (H291Y +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3214746	NM_001001974.4(PLEKHA1):c.941G>A (p.Arg314His)	PLEKHA1 (R266H +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312244	NM_001001974.4(PLEKHA1):c.950A>G (p.Asn317Ser)	PLEKHA1 (N269S +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3307479	NM_001001974.4(PLEKHA1):c.976A>G (p.Thr326Ala)	PLEKHA1 (T306A +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2533031	NM_001001974.4(PLEKHA1):c.999G>T (p.Leu333Phe)	PLEKHA1 (W299L +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3307477	NM_001001974.4(PLEKHA1):c.1007C>A (p.Thr336Asn)	PLEKHA1 (P356T +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214741	NM_001001974.4(PLEKHA1):c.1185C>G (p.Asp395Glu)	PLEKHA1 (D375E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341798	NM_001001974.4(PLEKHA1):c.1186G>A (p.Asp396Asn)	PLEKHA1 (D348N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375923	NM_001001974.4(PLEKHA1):c.1199C>T (p.Pro400Leu)	PLEKHA1 (P400L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214742	NM_001001974.4(PLEKHA1):c.1205G>A (p.Ser402Asn)	PLEKHA1 (S354N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244922	NC_000010.10:g.(?_122610933)_(124813281_?)dup	ACADSB, ARMS2 +16 more	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3244863	NC_000010.10:g.(?_122842033)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance
Select item 1808950	GRCh37/hg19 10q26.13(chr10:123964214-124477580)x3	ARMS2, BTBD16 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815380	GRCh37/hg19 10q26.13(chr10:123232922-124638514)x3	HTRA1, ARMS2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic

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Items: 83