PLEKHA2[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 150494	GRCh38/hg38 8p11.23-11.22(chr8:38046362-39172253)x1	ADAM32, ADAM9 +79 more	Copy number loss	See cases	GPathogenic
Select item 145616	GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1	ADAM18, ADAM2 +98 more	Copy number loss	See cases	GPathogenic
Select item 60360	GRCh38/hg38 8p11.23-11.21(chr8:38342177-40546982)x1	ADAM18, ADAM2 +81 more	Copy number loss	See cases	GPathogenic
Select item 2458483	NM_021623.2(PLEKHA2):c.53A>G (p.Glu18Gly)	PLEKHA2 (E18G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408277	NM_021623.2(PLEKHA2):c.67G>A (p.Gly23Ser)	PLEKHA2 (G23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485946	NM_021623.2(PLEKHA2):c.254A>G (p.Asn85Ser)	PLEKHA2 (N35S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383442	NM_021623.2(PLEKHA2):c.287A>G (p.Asn96Ser)	PLEKHA2 (N96S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307481	NM_021623.2(PLEKHA2):c.368C>T (p.Pro123Leu)	PLEKHA2 (P73L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518116	NM_021623.2(PLEKHA2):c.452T>C (p.Ile151Thr)	PLEKHA2 (I101T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307480	NM_021623.2(PLEKHA2):c.473C>T (p.Thr158Ile)	PLEKHA2 (T108I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460587	NM_021623.2(PLEKHA2):c.574C>G (p.Arg192Gly)	PLEKHA2 (R192G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393930	NM_021623.2(PLEKHA2):c.602A>G (p.Lys201Arg)	PLEKHA2 (K151R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322100	NM_021623.2(PLEKHA2):c.747G>T (p.Lys249Asn)	PLEKHA2 (K199N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214749	NM_021623.2(PLEKHA2):c.752A>G (p.His251Arg)	PLEKHA2 (H201R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214750	NM_021623.2(PLEKHA2):c.816C>A (p.Ser272Arg)	PLEKHA2 (S222R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214751	NM_021623.2(PLEKHA2):c.841G>A (p.Asp281Asn)	PLEKHA2 (D231N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608438	NM_021623.2(PLEKHA2):c.965G>C (p.Ser322Thr)	PLEKHA2 (S272T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326429	NM_021623.2(PLEKHA2):c.979C>T (p.Pro327Ser)	PLEKHA2 (P327S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389593	NM_021623.2(PLEKHA2):c.1003C>T (p.Arg335Trp)	PLEKHA2 (R335W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3214747	NM_021623.2(PLEKHA2):c.1091G>T (p.Gly364Val)	PLEKHA2 (G314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605341	NM_021623.2(PLEKHA2):c.1105C>T (p.Pro369Ser)	PLEKHA2 (P369S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344719	NM_021623.2(PLEKHA2):c.1144C>T (p.Arg382Cys)	PLEKHA2 (R382C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214748	NM_021623.2(PLEKHA2):c.1145G>A (p.Arg382His)	PLEKHA2 (R332H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2659006	GRCh37/hg19 8p11.22-11.21(chr8:38602986-41615655)x1	ADAM18, ADAM2 +16 more	Copy number loss	not provided	GPathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2426105	NC_000008.10:g.(?_38117538)_(38961219_?)dup	ADAM9, DDHD2 +9 more	Duplication	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Spastic paraplegia +3 more	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527427	GRCh37/hg19 8p11.22-11.21(chr8:38430146-41294984)	ADAM18, ADAM2 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527425	GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)	ADGRA2, ADRB3 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 1455925	NC_000008.10:g.(?_37595441)_(38961219_?)del	ADAM9, ADGRA2 +21 more	Deletion	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 688131	GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3	ADAM18, ADAM2 +54 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563546	GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	ADGRA2, BAG4 +41 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442711	GRCh37/hg19 8p11.22-11.21(chr8:38430146-41298595)x1	ADAM18, ADAM2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance

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Items: 83