ClinVar for Gene (Select 5806) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311711	NM_002852.4(PTX3):c.715T>C (p.Tyr239His)	PTX3, VEPH1 (Y239H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311710	NM_002852.4(PTX3):c.508G>C (p.Ala170Pro)	PTX3, VEPH1 (A170P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149754	NM_002852.4(PTX3):c.938A>G (p.Glu313Gly)	PTX3, VEPH1 (E313G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149753	NM_002852.4(PTX3):c.797G>C (p.Arg266Thr)	PTX3, VEPH1 (R266T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149752	NM_002852.4(PTX3):c.692G>A (p.Arg231Lys)	PTX3, VEPH1 (R231K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149751	NM_002852.4(PTX3):c.530C>A (p.Ala177Glu)	PTX3, VEPH1 (A177E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149750	NM_002852.4(PTX3):c.464A>G (p.Glu155Gly)	PTX3, VEPH1 (E155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149749	NM_002852.4(PTX3):c.422G>T (p.Arg141Leu)	PTX3, VEPH1 (R141L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149748	NM_002852.4(PTX3):c.380C>A (p.Ala127Glu)	PTX3, VEPH1 (A127E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149747	NM_002852.4(PTX3):c.376G>C (p.Asp126His)	PTX3, VEPH1 (D126H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149745	NM_002852.4(PTX3):c.359T>C (p.Leu120Pro)	PTX3, VEPH1 (L120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149744	NM_002852.4(PTX3):c.1115A>T (p.Gln372Leu)	PTX3, VEPH1 (Q372L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061396	NM_002852.4(PTX3):c.716A>G (p.Tyr239Cys)	PTX3, VEPH1 (Y239C)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder	GUncertain significance
Select item 3061251	NM_002852.4(PTX3):c.647C>G (p.Thr216Arg)	PTX3, VEPH1 (T216R)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder	GUncertain significance
Select item 3055811	NM_002852.4(PTX3):c.355G>C (p.Glu119Gln)	PTX3, VEPH1 (E119Q)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2632562	NM_002852.4(PTX3):c.414G>T (p.Glu138Asp)	PTX3, VEPH1 (E138D)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder	GUncertain significance
Select item 2568754	NM_002852.4(PTX3):c.302G>A (p.Arg101Lys)	PTX3, VEPH1 (R101K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555864	NM_002852.4(PTX3):c.280C>T (p.Arg94Trp)	PTX3, VEPH1 (R94W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549753	NM_002852.4(PTX3):c.440G>A (p.Arg147His)	PTX3, VEPH1 (R147H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545269	NM_002852.4(PTX3):c.1117C>A (p.Pro373Thr)	PTX3, VEPH1 (P373T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461757	NM_002852.4(PTX3):c.271G>A (p.Glu91Lys)	PTX3, VEPH1 (E91K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390855	NM_002852.4(PTX3):c.1121A>G (p.His374Arg)	PTX3, VEPH1 (H374R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353054	NM_002852.4(PTX3):c.413A>C (p.Glu138Ala)	PTX3, VEPH1 (E138A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352353	NM_002852.4(PTX3):c.997C>T (p.Leu333Phe)	PTX3, VEPH1 (L333F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304765	NM_002852.4(PTX3):c.484G>C (p.Asp162His)	PTX3, VEPH1 (D162H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284723	NM_002852.4(PTX3):c.793G>C (p.Gly265Arg)	PTX3, VEPH1 (G265R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267257	NM_002852.4(PTX3):c.251A>T (p.Glu84Val)	PTX3, VEPH1 (E84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257969	NM_002852.4(PTX3):c.803C>T (p.Thr268Ile)	PTX3, VEPH1 (T268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242621	NM_002852.4(PTX3):c.492C>G (p.His164Gln)	PTX3, VEPH1 (H164Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 784028	NM_002852.4(PTX3):c.117T>G (p.His39Gln)	PTX3, VEPH1 (H39Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 770895	NM_002852.4(PTX3):c.500A>G (p.Gln167Arg)	PTX3, VEPH1 (Q167R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 770537	NM_002852.4(PTX3):c.46T>C (p.Leu16=)	PTX3, VEPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731088	NM_002852.4(PTX3):c.1079G>A (p.Arg360Gln)	VEPH1, PTX3 (R360Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714212	NM_002852.4(PTX3):c.795A>T (p.Gly265=)	PTX3, VEPH1	Single nucleotide variant (synonymous variant +1 more)	PTX3-related disorder +1 more	GBenign/Likely benign
Select item 547928	NM_002852.4(PTX3):c.919A>G (p.Ile307Val)	PTX3, VEPH1 (I307V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 91946	NM_002852.4(PTX3):c.108T>C (p.Asn36=)	PTX3, VEPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 56