ClinVar for Gene (Select 345557) - ClinVar

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

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307405	NM_001005473.3(PLCXD3):c.493A>G (p.Ile165Val)	PLCXD3 (I165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214611	NM_001005473.3(PLCXD3):c.734C>G (p.Ser245Cys)	PLCXD3 (S245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214610	NM_001005473.3(PLCXD3):c.667G>A (p.Glu223Lys)	PLCXD3 (E223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214609	NM_001005473.3(PLCXD3):c.458A>G (p.Tyr153Cys)	PLCXD3 (Y153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214608	NM_001005473.3(PLCXD3):c.386A>G (p.Asn129Ser)	PLCXD3 (N129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214607	NM_001005473.3(PLCXD3):c.317C>A (p.Pro106His)	PLCXD3 (P106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2611528	NM_001005473.3(PLCXD3):c.625G>A (p.Gly209Arg)	PLCXD3 (G209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605270	NM_001005473.3(PLCXD3):c.253A>G (p.Thr85Ala)	PLCXD3 (T85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569921	NM_001005473.3(PLCXD3):c.758C>G (p.Ala253Gly)	PLCXD3 (A253G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532987	NM_001005473.3(PLCXD3):c.663C>G (p.Asp221Glu)	PLCXD3 (D221E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356637	NM_001005473.3(PLCXD3):c.184G>A (p.Val62Ile)	PLCXD3 (V62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283449	NM_001005473.3(PLCXD3):c.564C>G (p.Asp188Glu)	PLCXD3 (D188E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273159	NM_001005473.3(PLCXD3):c.785G>A (p.Ser262Asn)	PLCXD3 (S262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258321	NM_001005473.3(PLCXD3):c.917C>T (p.Thr306Ile)	PLCXD3 (T306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217698	NM_001005473.3(PLCXD3):c.407A>G (p.His136Arg)	PLCXD3 (H136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 979500	GRCh37/hg19 5p13.1(chr5:41087704-41604627)x1	PLCXD3, C6	Copy number loss	not provided	GUncertain significance
Select item 814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	GHR, CARD6 +31 more	Copy number gain	not provided	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 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

Links from Gene

Items: 37