ClinVar for Gene (Select 10630) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341599	NM_006474.5(PDPN):c.127A>G (p.Met43Val)	PDPN (M119V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3305596	NM_006474.5(PDPN):c.404T>C (p.Ile135Thr)	PDPN (I93T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3211050	NM_006474.5(PDPN):c.-159C>T	PDPN (R24W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3211049	NM_006474.5(PDPN):c.353A>G (p.Gln118Arg)	PDPN (Q76R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211048	NM_006474.5(PDPN):c.317C>G (p.Thr106Ser)	PDPN (T182S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211047	NM_006474.5(PDPN):c.139G>A (p.Glu47Lys)	PDPN (E123K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638287	NM_006474.5(PDPN):c.-196A>G	PDPN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2568519	NM_006474.5(PDPN):c.175C>A (p.Arg59Ser)	PDPN (R59S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2403146	NM_006474.5(PDPN):c.218A>G (p.Asn73Ser)	PDPN (N31S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391771	NM_006474.5(PDPN):c.274G>A (p.Ala92Thr)	PDPN (A168T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356675	NM_006474.5(PDPN):c.-161C>G	PDPN (A23G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2248174	NM_006474.5(PDPN):c.416T>C (p.Leu139Ser)	PDPN (L97S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215894	NM_006474.5(PDPN):c.119G>C (p.Gly40Ala)	PDPN (G116A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 814057	GRCh37/hg19 1p36.21(chr1:13709328-13948225)x3	PRAMEF20, PDPN +2 more	Copy number gain	not provided	GLikely benign
Select item 767654	NM_006474.5(PDPN):c.273C>T (p.His91=)	PDPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717608	NM_006474.5(PDPN):c.294C>T (p.Ser98=)	PDPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709645	NM_006474.5(PDPN):c.-183C>T	PDPN (R16W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 523268	GRCh37/hg19 1p36.21(chr1:13801823-14012604)	PDPN, LRRC38	Copy number gain	Tall stature +2 more	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 149960	GRCh38/hg38 1p36.21(chr1:13400935-15356944)x1	FHAD1, FHAD1-AS1 +55 more	Copy number loss	See cases	GLikely pathogenic
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47