PCSK7[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	APOA1, APOA1-AS +90 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 790849	NM_004716.4(PCSK7):c.2330C>T (p.Pro777Leu)	PCSK7, TAGLN (P777L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2470863	NM_004716.4(PCSK7):c.2288A>C (p.Asn763Thr)	PCSK7, TAGLN (N763T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2238664	NM_004716.4(PCSK7):c.2284C>G (p.Gln762Glu)	PCSK7, TAGLN (Q762E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210482	NM_004716.4(PCSK7):c.2197G>A (p.Glu733Lys)	PCSK7, TAGLN (E733K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2544616	NM_004716.4(PCSK7):c.2060A>G (p.Tyr687Cys)	PCSK7, TAGLN (Y687C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2261270	NM_004716.4(PCSK7):c.2053G>A (p.Glu685Lys)	PCSK7, TAGLN (E685K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210481	NM_004716.4(PCSK7):c.2006T>C (p.Val669Ala)	PCSK7, TAGLN (V669A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2642406	NM_004716.4(PCSK7):c.1917C>T (p.His639=)	TAGLN, PCSK7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2308300	NM_004716.4(PCSK7):c.1853G>C (p.Ser618Thr)	PCSK7, TAGLN (S618T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 769807	NM_004716.4(PCSK7):c.1786+7C>T	PCSK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769808	NM_004716.4(PCSK7):c.1770T>G (p.Leu590=)	PCSK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065337	NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)	PCSK7 (R560G)	Single nucleotide variant (missense variant)	Midline facial cleft +2 more	GUncertain significance
Select item 1065338	NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)	PCSK7 (K545T)	Single nucleotide variant (missense variant)	Pericallosal lipoma +2 more	GUncertain significance
Select item 2619304	NM_004716.4(PCSK7):c.1616G>A (p.Arg539His)	PCSK7 (R539H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642407	NM_004716.4(PCSK7):c.1581T>C (p.His527=)	PCSK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308185	NM_004716.4(PCSK7):c.1510C>T (p.Arg504Cys)	LOC126861352, PCSK7 (R504C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210479	NM_004716.4(PCSK7):c.1465G>A (p.Val489Ile)	LOC126861352, PCSK7 (V489I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289208	NM_004716.4(PCSK7):c.1462T>C (p.Tyr488His)	LOC126861352, PCSK7 (Y488H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210477	NM_004716.4(PCSK7):c.1337G>A (p.Arg446His)	PCSK7 (R446H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210476	NM_004716.4(PCSK7):c.1325A>G (p.Tyr442Cys)	PCSK7 (Y442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210475	NM_004716.4(PCSK7):c.1312A>G (p.Thr438Ala)	PCSK7 (T438A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550348	NM_004716.4(PCSK7):c.1150A>G (p.Ser384Gly)	PCSK7 (S384G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210474	NM_004716.4(PCSK7):c.1148G>A (p.Arg383Gln)	PCSK7 (R383Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210473	NM_004716.4(PCSK7):c.1045G>A (p.Val349Ile)	PCSK7 (V349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296723	NM_004716.4(PCSK7):c.868C>G (p.Pro290Ala)	PCSK7 (P290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210485	NM_004716.4(PCSK7):c.866G>A (p.Gly289Glu)	PCSK7 (G289E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621606	NM_004716.4(PCSK7):c.679C>T (p.His227Tyr)	PCSK7 (H227Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319117	NM_004716.4(PCSK7):c.635A>G (p.Asn212Ser)	PCSK7 (N212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981821	NM_004716.4(PCSK7):c.613G>A (p.Gly205Ser)	PCSK7 (G205S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2615573	NM_004716.4(PCSK7):c.553G>A (p.Val185Ile)	PCSK7 (V185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315684	NM_004716.4(PCSK7):c.452C>T (p.Pro151Leu)	PCSK7 (P151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774629	NM_004716.4(PCSK7):c.447G>A (p.Lys149=)	PCSK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3210484	NM_004716.4(PCSK7):c.383G>A (p.Arg128His)	PCSK7 (R128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533990	NM_004716.4(PCSK7):c.340C>G (p.Arg114Gly)	PCSK7 (R114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210483	NM_004716.4(PCSK7):c.263G>A (p.Arg88His)	PCSK7 (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376443	NM_004716.4(PCSK7):c.221C>T (p.Ala74Val)	PCSK7 (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210480	NM_004716.4(PCSK7):c.199G>A (p.Glu67Lys)	PCSK7 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519387	NM_004716.4(PCSK7):c.190G>A (p.Asp64Asn)	PCSK7 (D64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293923	NM_004716.4(PCSK7):c.187G>A (p.Gly63Ser)	PCSK7 (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210478	NM_004716.4(PCSK7):c.145A>C (p.Thr49Pro)	PCSK7 (T49P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286240	NM_004716.4(PCSK7):c.124G>A (p.Gly42Ser)	PCSK7 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524821	NM_004716.4(PCSK7):c.29A>G (p.His10Arg)	PCSK7 (H10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	APOA1, APOA4 +17 more	Deletion	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	ARHGEF12, ATP5MG +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic

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Items: 71