QPCTL[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	CCDC61, CCDC8 +115 more	Copy number loss	See cases	GPathogenic
Select item 2402776	NM_017659.4(QPCTL):c.28C>T (p.Arg10Cys)	QPCTL (R10C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403952	NM_017659.4(QPCTL):c.38T>G (p.Leu13Arg)	QPCTL (L13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281415	NM_017659.4(QPCTL):c.163T>C (p.Trp55Arg)	QPCTL (W55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488319	NM_017659.4(QPCTL):c.206G>T (p.Arg69Leu)	QPCTL (R69L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272240	NM_017659.4(QPCTL):c.208G>A (p.Val70Ile)	QPCTL (V70I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261803	NM_017659.4(QPCTL):c.320C>T (p.Pro107Leu)	QPCTL (P107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492326	NM_017659.4(QPCTL):c.386G>A (p.Gly129Asp)	QPCTL (G129D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465099	NM_017659.4(QPCTL):c.409T>A (p.Phe137Ile)	QPCTL (F137I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603021	NM_017659.4(QPCTL):c.437T>G (p.Val146Gly)	QPCTL (V146G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246657	NM_017659.4(QPCTL):c.451G>A (p.Val151Met)	QPCTL (V151M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 780575	NM_017659.4(QPCTL):c.482G>A (p.Arg161His)	QPCTL (R161H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2378962	NM_017659.4(QPCTL):c.503A>G (p.His168Arg)	QPCTL (H168R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408716	NM_017659.4(QPCTL):c.533C>T (p.Ser178Leu)	QPCTL (S178L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249463	NM_017659.4(QPCTL):c.607C>G (p.Leu203Val)	QPCTL (L203V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532667	NM_017659.4(QPCTL):c.638C>G (p.Ala213Gly)	QPCTL (A213G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280542	NM_017659.4(QPCTL):c.742G>A (p.Glu248Lys)	QPCTL (E154K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592916	NM_017659.4(QPCTL):c.770C>T (p.Thr257Ile)	QPCTL (T257I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240982	NM_017659.4(QPCTL):c.790C>T (p.Leu264Phe)	QPCTL (L170F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537069	NM_017659.4(QPCTL):c.851G>C (p.Arg284Pro)	QPCTL (R190P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457501	NM_017659.4(QPCTL):c.851G>A (p.Arg284His)	QPCTL (R284H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404923	NM_017659.4(QPCTL):c.859C>T (p.Arg287Cys)	QPCTL (R193C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216499	NM_017659.4(QPCTL):c.871C>T (p.Arg291Trp)	QPCTL (R197W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343312	NM_017659.4(QPCTL):c.899A>G (p.His300Arg)	QPCTL (H206R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517141	NM_017659.4(QPCTL):c.902G>A (p.Arg301His)	QPCTL (R301H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387715	NM_017659.4(QPCTL):c.907A>G (p.Asn303Asp)	QPCTL (N209D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650121	NM_017659.4(QPCTL):c.1032G>A (p.Thr344=)	QPCTL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2481446	NM_017659.4(QPCTL):c.1061C>T (p.Ala354Val)	QPCTL (A354V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540518	NM_017659.4(QPCTL):c.1067C>A (p.Thr356Asn)	QPCTL (T262N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650122	NM_017659.4(QPCTL):c.1091C>T (p.Thr364Met)	QPCTL (T270M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2275919	NM_017659.4(QPCTL):c.1109G>A (p.Arg370His)	QPCTL (R370H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 564591	GRCh37/hg19 19q13.32(chr19:46192402-46603824)x3	SNRPD2, IRF2BP1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 564588	GRCh37/hg19 19q13.32(chr19:45945375-46215558)x3	EML2, SNRPD2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic

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Items: 43