9692[HGNC] - ClinVar

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

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 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 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 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
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 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 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 3349826	NM_002852.4(PTX3):c.202A>G (p.Met68Val)	PTX3, VEPH1 (M68V)	Single nucleotide variant (missense variant +1 more)	PTX3-related disorder	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 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 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 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 3055811	NM_002852.4(PTX3):c.355G>C (p.Glu119Gln)	PTX3, VEPH1 (E119Q)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 714212	NM_002852.4(PTX3):c.795A>T (p.Gly265=)	PTX3, VEPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 731088	NM_002852.4(PTX3):c.1079G>A (p.Arg360Gln)	PTX3, VEPH1 (R360Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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)	PLOD2, PLS1 +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 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

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: 57