ZPR1[gene] - ClinVar

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Items: 41

	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 2373802	NM_003904.5(ZPR1):c.1376G>A (p.Arg459Gln)	ZPR1 (R405Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462498	NM_003904.5(ZPR1):c.1375C>T (p.Arg459Trp)	ZPR1 (R405W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263642	NM_003904.5(ZPR1):c.1367C>G (p.Ala456Gly)	ZPR1 (A402G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513840	NM_003904.5(ZPR1):c.1289G>C (p.Arg430Pro)	ZPR1 (R430P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294993	NM_003904.5(ZPR1):c.1261G>C (p.Glu421Gln)	ZPR1 (E367Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778441	NM_003904.5(ZPR1):c.1256C>T (p.Ala419Val)	ZPR1 (A419V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2307046	NM_003904.5(ZPR1):c.1235G>T (p.Ser412Ile)	ZPR1 (S358I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642396	NM_003904.5(ZPR1):c.1161T>A (p.Phe387Leu)	ZPR1 (F333L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2549476	NM_003904.5(ZPR1):c.962T>C (p.Met321Thr)	ZPR1 (M267T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404524	NM_003904.5(ZPR1):c.930G>C (p.Arg310Ser)	ZPR1 (R310S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401788	NM_003904.5(ZPR1):c.880C>T (p.Arg294Trp)	ZPR1 (R294W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235294	NM_003904.5(ZPR1):c.773A>T (p.Asn258Ile)	ZPR1 (N204I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406866	NM_003904.5(ZPR1):c.647C>T (p.Ala216Val)	ZPR1 (A216V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1077080	NM_003904.5(ZPR1):c.587T>C (p.Ile196Thr)	ZPR1 (I196T +1 more)	Single nucleotide variant (missense variant)	Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	GPathogenic
Select item 2308596	NM_003904.5(ZPR1):c.529G>A (p.Glu177Lys)	ZPR1 (E123K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398774	NM_003904.5(ZPR1):c.508G>C (p.Ala170Pro)	ZPR1 (A170P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231564	NM_003904.5(ZPR1):c.315G>T (p.Leu105Phe)	ZPR1 (L105F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221312	NM_003904.5(ZPR1):c.236C>T (p.Ser79Phe)	ZPR1 (S79F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484800	NM_003904.5(ZPR1):c.158A>C (p.Asn53Thr)	LOC130006797, ZPR1 (N53T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367835	NM_003904.5(ZPR1):c.115G>A (p.Asp39Asn)	LOC130006797, ZPR1 (D39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207927	NM_003904.5(ZPR1):c.61G>A (p.Ala21Thr)	LOC130006797, ZPR1 (A21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066069	NM_001371904.1(APOA5):c.681C>A (p.Cys227Ter)	APOA5, ZPR1 (C227*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia 1	GLikely pathogenic
Select item 2685424	GRCh37/hg19 11q23.3(chr11:116575812-116684028)x1	APOA5, BUD13 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684656	GRCh37/hg19 11q23.3(chr11:115182164-116759502)x3	APOA1, APOA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
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	APOA1, APOA4 +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 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 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: 41