24310[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 2470243	NM_016274.6(PLEKHO1):c.19T>C (p.Ser7Pro)	PLEKHO1 (S7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783947	NM_016274.6(PLEKHO1):c.31-4G>T	PLEKHO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3215190	NM_016274.6(PLEKHO1):c.103G>A (p.Gly35Arg)	PLEKHO1 (G35R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2513683	NM_016274.6(PLEKHO1):c.193A>T (p.Asn65Tyr)	PLEKHO1 (N65Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2618799	NM_016274.6(PLEKHO1):c.289C>T (p.Leu97Phe)	PLEKHO1 (L97F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3215191	NM_016274.6(PLEKHO1):c.296A>G (p.His99Arg)	PLEKHO1 (H99R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2597200	NM_016274.6(PLEKHO1):c.310G>A (p.Gly104Ser)	PLEKHO1 (G104S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2300736	NM_016274.6(PLEKHO1):c.327C>G (p.Asn109Lys)	PLEKHO1 (N109K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2282133	NM_016274.6(PLEKHO1):c.409C>T (p.Arg137Cys)	PLEKHO1 (R137C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2461672	NM_016274.6(PLEKHO1):c.410G>A (p.Arg137His)	PLEKHO1 (R137H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405957	NM_016274.6(PLEKHO1):c.667C>T (p.Arg223Trp)	PLEKHO1 (R223W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360241	NM_016274.6(PLEKHO1):c.685C>T (p.Arg229Cys)	PLEKHO1 (R46C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387112	NM_016274.6(PLEKHO1):c.707G>A (p.Arg236Gln)	PLEKHO1 (R64Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301960	NM_016274.6(PLEKHO1):c.740C>T (p.Thr247Ile)	PLEKHO1 (T247I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270874	NM_016274.6(PLEKHO1):c.779A>G (p.Lys260Arg)	PLEKHO1 (K77R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538583	NM_016274.6(PLEKHO1):c.791C>T (p.Thr264Ile)	PLEKHO1 (T92I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309568	NM_016274.6(PLEKHO1):c.802C>T (p.Arg268Cys)	PLEKHO1 (R268C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215192	NM_016274.6(PLEKHO1):c.812C>G (p.Ser271Cys)	PLEKHO1 (S99C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639156	NM_016274.6(PLEKHO1):c.849T>A (p.Ser283=)	PLEKHO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720524	NM_016274.6(PLEKHO1):c.865C>T (p.Leu289=)	PLEKHO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2639157	NM_016274.6(PLEKHO1):c.873T>A (p.Ala291=)	PLEKHO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358373	NM_016274.6(PLEKHO1):c.905C>T (p.Pro302Leu)	PLEKHO1 (P302L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278114	NM_016274.6(PLEKHO1):c.908G>A (p.Gly303Glu)	PLEKHO1 (G303E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608131	NM_016274.6(PLEKHO1):c.922A>C (p.Ile308Leu)	PLEKHO1 (I136L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607464	NM_016274.6(PLEKHO1):c.1037C>T (p.Ser346Phe)	PLEKHO1 (S163F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371521	NM_016274.6(PLEKHO1):c.1142A>G (p.Asp381Gly)	PLEKHO1 (D381G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386471	NM_016274.6(PLEKHO1):c.1176C>G (p.Asp392Glu)	PLEKHO1 (D392E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425201	NC_000001.10:g.(?_150039915)_(150464158_?)dup	ANP32E, APH1A +9 more	Duplication	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ANXA9, GPATCH4 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1411622	NC_000001.10:g.(?_150044213)_(150477474_?)dup	ANP32E, APH1A +9 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 393786	GRCh37/hg19 1q21.2(chr1:149895368-150130518)x1	MTMR11, OTUD7B +3 more	Copy number loss	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 42