ClinVar for Gene (Select 400224) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214869	NM_001161498.2(PLEKHD1):c.989C>T (p.Ser330Phe)	PLEKHD1 (S330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214868	NM_001161498.2(PLEKHD1):c.554A>G (p.Glu185Gly)	PLEKHD1 (E185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214867	NM_001161498.2(PLEKHD1):c.359C>T (p.Ser120Leu)	PLEKHD1 (S120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214866	NM_001161498.2(PLEKHD1):c.321C>G (p.His107Gln)	PLEKHD1 (H107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214865	NM_001161498.2(PLEKHD1):c.234A>G (p.Ile78Met)	PLEKHD1 (I78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214864	NM_001161498.2(PLEKHD1):c.1401G>A (p.Met467Ile)	PLEKHD1 (M467I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214863	NM_001161498.2(PLEKHD1):c.1159G>C (p.Glu387Gln)	PLEKHD1 (E387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214862	NM_001161498.2(PLEKHD1):c.1159G>A (p.Glu387Lys)	PLEKHD1 (E387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214861	NM_001161498.2(PLEKHD1):c.1103C>G (p.Ala368Gly)	PLEKHD1 (A368G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214860	NM_001161498.2(PLEKHD1):c.1075A>C (p.Met359Leu)	PLEKHD1 (M359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214859	NM_001161498.2(PLEKHD1):c.1072C>T (p.Arg358Cys)	PLEKHD1 (R358C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063331	GRCh37/hg19 14q24.1(chr14:69909189-69981608)x1	PLEKHD1, SLC39A9	Copy number loss	not specified	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 2607716	NM_001161498.2(PLEKHD1):c.200A>G (p.Lys67Arg)	PLEKHD1 (K67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559498	NM_001161498.2(PLEKHD1):c.787G>A (p.Glu263Lys)	PLEKHD1 (E263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555353	NM_001161498.2(PLEKHD1):c.614T>C (p.Val205Ala)	PLEKHD1 (V205A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538491	NM_001161498.2(PLEKHD1):c.278C>G (p.Pro93Arg)	PLEKHD1 (P93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528925	NM_001161498.2(PLEKHD1):c.765G>T (p.Lys255Asn)	PLEKHD1 (K255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523130	NM_001161498.2(PLEKHD1):c.566G>A (p.Arg189His)	PLEKHD1 (R189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521741	NM_001161498.2(PLEKHD1):c.589G>A (p.Glu197Lys)	PLEKHD1 (E197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521413	NM_001161498.2(PLEKHD1):c.1444C>T (p.Arg482Cys)	PLEKHD1 (R482C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487998	NM_001161498.2(PLEKHD1):c.1367C>T (p.Ser456Phe)	PLEKHD1 (S456F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486282	NM_001161498.2(PLEKHD1):c.406A>G (p.Lys136Glu)	PLEKHD1 (K136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462573	NM_001161498.2(PLEKHD1):c.514G>A (p.Glu172Lys)	PLEKHD1 (E172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	GALNT16, ZFP36L1 +13 more	Deletion	not provided	GPathogenic
Select item 2397890	NM_001161498.2(PLEKHD1):c.1322G>A (p.Arg441Gln)	PLEKHD1 (R441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386993	NM_001161498.2(PLEKHD1):c.1508G>A (p.Arg503Gln)	PLEKHD1 (R503Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372329	NM_001161498.2(PLEKHD1):c.1259T>C (p.Met420Thr)	PLEKHD1 (M420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371859	NM_001161498.2(PLEKHD1):c.1426C>T (p.Arg476Trp)	PLEKHD1 (R476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367751	NM_001161498.2(PLEKHD1):c.754A>G (p.Ile252Val)	PLEKHD1 (I252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364005	NM_001161498.2(PLEKHD1):c.1328G>A (p.Arg443Gln)	PLEKHD1 (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343610	NM_001161498.2(PLEKHD1):c.922C>T (p.Arg308Trp)	PLEKHD1 (R308W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339113	NM_001161498.2(PLEKHD1):c.1295G>A (p.Arg432His)	PLEKHD1 (R432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334990	NM_001161498.2(PLEKHD1):c.1450C>T (p.Arg484Trp)	PLEKHD1 (R484W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329279	NM_001161498.2(PLEKHD1):c.1018C>A (p.Leu340Met)	PLEKHD1 (L340M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295862	NM_001161498.2(PLEKHD1):c.1401G>T (p.Met467Ile)	PLEKHD1 (M467I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289804	NM_001161498.2(PLEKHD1):c.859A>C (p.Asn287His)	PLEKHD1 (N287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272998	NM_001161498.2(PLEKHD1):c.662T>C (p.Leu221Pro)	PLEKHD1 (L221P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257162	NM_001161498.2(PLEKHD1):c.1231G>A (p.Glu411Lys)	PLEKHD1 (E411K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241956	NM_001161498.2(PLEKHD1):c.725C>T (p.Ser242Phe)	PLEKHD1 (S242F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219026	NM_001161498.2(PLEKHD1):c.1150C>T (p.Arg384Trp)	PLEKHD1 (R384W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214027	NM_001161498.2(PLEKHD1):c.1313G>A (p.Arg438His)	PLEKHD1 (R438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 791187	NM_001161498.2(PLEKHD1):c.1029G>A (p.Glu343=)	PLEKHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785463	NM_001161498.2(PLEKHD1):c.333+10G>A	PLEKHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785462	NM_001161498.2(PLEKHD1):c.244-10T>C	PLEKHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781288	NM_001161498.2(PLEKHD1):c.1351+4A>G	PLEKHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689205	GRCh37/hg19 14q24.1(chr14:69921280-69976359)x3	PLEKHD1, SLC39A9	Copy number gain	not provided	GUncertain significance
Select item 687816	GRCh37/hg19 14q24.1(chr14:69921280-69976359)x3	PLEKHD1, SLC39A9	Copy number gain	not provided	GUncertain significance
Select item 687805	GRCh37/hg19 14q24.1(chr14:69921280-69976359)x3	PLEKHD1, SLC39A9	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
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

ClinVar

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Links from Gene

Items: 56