QPCT[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 2349437	NM_012413.4(QPCT):c.101C>T (p.Ser34Leu)	QPCT (S34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260138	NM_012413.4(QPCT):c.292C>T (p.Leu98Phe)	QPCT (L98F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260040	NM_012413.4(QPCT):c.484G>A (p.Val162Met)	QPCT (V162M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530141	NM_012413.4(QPCT):c.498G>T (p.Met166Ile)	QPCT (M166I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308973	NM_012413.4(QPCT):c.514C>T (p.Arg172Cys)	QPCT (R172C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590273	NM_012413.4(QPCT):c.515G>A (p.Arg172His)	QPCT (R172H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227332	NM_012413.4(QPCT):c.548C>G (p.Thr183Ser)	QPCT (T183S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600928	NM_012413.4(QPCT):c.656T>C (p.Leu219Ser)	QPCT (L219S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310558	NM_012413.4(QPCT):c.674C>T (p.Ser225Leu)	QPCT (S225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291131	NM_012413.4(QPCT):c.699A>C (p.Arg233Ser)	QPCT (R233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262645	NM_012413.4(QPCT):c.748A>G (p.Ile250Val)	QPCT (I250V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258251	NM_012413.4(QPCT):c.766A>G (p.Thr256Ala)	QPCT (T256A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241363	NM_012413.4(QPCT):c.781T>A (p.Phe261Ile)	QPCT (F261I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275440	NM_012413.4(QPCT):c.868G>C (p.Glu290Gln)	QPCT (E290Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551699	NM_012413.4(QPCT):c.925C>G (p.Pro309Ala)	QPCT (P309A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540321	NM_012413.4(QPCT):c.943G>A (p.Val315Ile)	QPCT (V315I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519009	NM_012413.4(QPCT):c.946C>G (p.Pro316Ala)	QPCT (P316A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237708	NM_012413.4(QPCT):c.985T>C (p.Trp329Arg)	QPCT (W329R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224995	NM_012413.4(QPCT):c.1027A>G (p.Thr343Ala)	QPCT (T343A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719315	NM_012413.4(QPCT):c.1058T>C (p.Val353Ala)	QPCT (V353A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062619	GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3	CDC42EP3, CEBPZ +10 more	Copy number gain	not specified	GUncertain significance
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979973	GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3	CRIM1, SULT6B1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41