ClinVar for Gene (Select 27250) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305311	NM_014456.5(PDCD4):c.517C>A (p.Gln173Lys)	PDCD4 (Q162K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305310	NM_014456.5(PDCD4):c.506C>A (p.Thr169Lys)	PDCD4 (T155K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305309	NM_014456.5(PDCD4):c.943T>G (p.Trp315Gly)	PDCD4 (W301G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244919	NC_000010.10:g.(?_112540539)_(112837073_?)del	RBM20, ADRA2A +3 more	Deletion	RASopathy	GUncertain significance
Select item 3210581	NM_014456.5(PDCD4):c.999G>C (p.Met333Ile)	PDCD4 (M322I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210580	NM_014456.5(PDCD4):c.868C>G (p.Gln290Glu)	PDCD4 (Q279E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210579	NM_014456.5(PDCD4):c.1132A>G (p.Ser378Gly)	PDCD4 (S378G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210578	NM_014456.5(PDCD4):c.1082A>G (p.His361Arg)	PDCD4 (H361R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210577	NM_014456.5(PDCD4):c.1019T>C (p.Leu340Pro)	PDCD4 (L326P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2609823	NM_014456.5(PDCD4):c.1226A>G (p.Tyr409Cys)	PDCD4 (Y409C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592040	NM_014456.5(PDCD4):c.1271C>G (p.Ser424Cys)	PDCD4 (S413C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580339	GRCh37/hg19 10q25.2(chr10:112021329-113054313)x3	ADRA2A, BBIP1 +7 more	Copy number gain	RASopathy	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2559019	NM_014456.5(PDCD4):c.353C>T (p.Ala118Val)	PDCD4 (A107V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495860	NM_014456.5(PDCD4):c.737A>T (p.Asp246Val)	PDCD4 (D235V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464430	NM_014456.5(PDCD4):c.239G>T (p.Ser80Ile)	PDCD4 (S69I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425354	NC_000010.10:g.(?_111860412)_(112839579_?)dup	ADD3, ADRA2A +8 more	Duplication	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2423797	NC_000010.10:g.(?_112404213)_(112771576_?)dup	BBIP1, PDCD4 +2 more	Duplication	Dilated cardiomyopathy 1DD +1 more	GConflicting classifications of pathogenicity
Select item 2318969	NM_014456.5(PDCD4):c.205C>T (p.Arg69Trp)	PDCD4 (R58W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313740	NM_014456.5(PDCD4):c.250G>A (p.Ala84Thr)	PDCD4 (A70T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281521	NM_014456.5(PDCD4):c.561G>A (p.Met187Ile)	PDCD4 (M173I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266469	NM_014456.5(PDCD4):c.227C>T (p.Ser76Leu)	PDCD4 (S65L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240463	NM_014456.5(PDCD4):c.965A>G (p.Gln322Arg)	PDCD4 (Q308R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1410209	NC_000010.10:g.(?_112404213)_(112771576_?)del	BBIP1, PDCD4 +2 more	Deletion	Dilated cardiomyopathy 1DD	GUncertain significance
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 747235	NM_014456.5(PDCD4):c.102G>A (p.Glu34=)	PDCD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710229	NM_014456.5(PDCD4):c.1167C>T (p.Ser389=)	PDCD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51