PLEK2[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 3307475	NM_016445.3(PLEK2):c.1030G>A (p.Glu344Lys)	GPHN, PLEK2 (E344K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233249	NM_016445.3(PLEK2):c.1009A>T (p.Ser337Cys)	GPHN, PLEK2 (S337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358010	NM_016445.3(PLEK2):c.1006G>A (p.Ala336Thr)	GPHN, PLEK2 (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214740	NM_016445.3(PLEK2):c.916G>A (p.Asp306Asn)	GPHN, PLEK2 (D306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326218	NM_016445.3(PLEK2):c.902T>C (p.Val301Ala)	GPHN, PLEK2 (V301A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543592	NM_016445.3(PLEK2):c.889C>T (p.Arg297Cys)	GPHN, PLEK2 (R297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214739	NM_016445.3(PLEK2):c.866G>A (p.Arg289Lys)	GPHN, PLEK2 (R289K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515500	NM_016445.3(PLEK2):c.799C>T (p.Arg267Cys)	GPHN, PLEK2 (R267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214738	NM_016445.3(PLEK2):c.740C>T (p.Thr247Met)	GPHN, PLEK2 (T247M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214737	NM_016445.3(PLEK2):c.725T>G (p.Val242Gly)	GPHN, PLEK2 (V242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281144	NM_016445.3(PLEK2):c.658C>G (p.Leu220Val)	GPHN, PLEK2 (L220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345070	NM_016445.3(PLEK2):c.652A>T (p.Thr218Ser)	GPHN, PLEK2 (T218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401372	NM_016445.3(PLEK2):c.648C>G (p.Asp216Glu)	GPHN, PLEK2 (D216E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214735	NM_016445.3(PLEK2):c.596G>A (p.Arg199Gln)	GPHN, PLEK2 (R199Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537464	NM_016445.3(PLEK2):c.556A>C (p.Met186Leu)	GPHN, PLEK2 (M186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214734	NM_016445.3(PLEK2):c.479T>G (p.Leu160Arg)	GPHN, PLEK2 (L160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462022	NM_016445.3(PLEK2):c.446T>C (p.Met149Thr)	GPHN, PLEK2 (M149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214733	NM_016445.3(PLEK2):c.443A>G (p.Asn148Ser)	GPHN, PLEK2 (N148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214732	NM_016445.3(PLEK2):c.430C>T (p.Arg144Cys)	GPHN, PLEK2 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214731	NM_016445.3(PLEK2):c.400G>A (p.Asp134Asn)	GPHN, PLEK2 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307474	NM_016445.3(PLEK2):c.308T>C (p.Ile103Thr)	GPHN, PLEK2 (I103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335686	NM_016445.3(PLEK2):c.280G>A (p.Ala94Thr)	GPHN, PLEK2 (A94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463855	NM_016445.3(PLEK2):c.250C>G (p.Leu84Val)	GPHN, PLEK2 (L84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513968	NM_016445.3(PLEK2):c.206C>T (p.Pro69Leu)	GPHN, PLEK2 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214730	NM_016445.3(PLEK2):c.191A>C (p.Glu64Ala)	GPHN, PLEK2 (E64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236282	NM_016445.3(PLEK2):c.173T>A (p.Ile58Asn)	GPHN, PLEK2 (I58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379847	NM_016445.3(PLEK2):c.149G>A (p.Arg50Gln)	GPHN, PLEK2 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214729	NM_016445.3(PLEK2):c.148C>T (p.Arg50Trp)	GPHN, PLEK2 (R50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214728	NM_016445.3(PLEK2):c.122G>A (p.Gly41Asp)	GPHN, PLEK2 (G41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378556	NM_016445.3(PLEK2):c.95C>T (p.Thr32Met)	GPHN, PLEK2 (T32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307473	NM_016445.3(PLEK2):c.68C>T (p.Ala23Val)	GPHN, PLEK2 (A23V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597651	NM_016445.3(PLEK2):c.41G>A (p.Arg14Lys)	GPHN, PLEK2 (R14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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	CCNK, MIR376A1 +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	AREL1, ARF6 +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	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1015841	NC_000014.8:g.(?_65937790)_(68354021_?)dup	RDH11, PLEK2 +14 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 815669	GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3	TMEM229B, PLEKHH1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 45