PDCD5[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 58341	GRCh38/hg38 19q13.11(chr19:32469643-32843761)x1	ANKRD27, DPY19L3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 3305312	NM_004708.4(PDCD5):c.28A>G (p.Arg10Gly)	PDCD5 (R10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790757	NM_004708.4(PDCD5):c.46G>A (p.Glu16Lys)	PDCD5 (E16K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2376275	NM_004708.4(PDCD5):c.80C>T (p.Ala27Val)	PDCD5 (A27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789118	NM_004708.4(PDCD5):c.105-7G>A	PDCD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3210582	NM_004708.4(PDCD5):c.157C>T (p.Arg53Trp)	PDCD5 (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241382	NM_004708.4(PDCD5):c.158G>A (p.Arg53Gln)	PDCD5 (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210583	NM_004708.4(PDCD5):c.221T>G (p.Leu74Arg)	PDCD5 (L74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532393	NM_004708.4(PDCD5):c.277A>G (p.Ile93Val)	PDCD5 (I93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213217	NM_004708.4(PDCD5):c.350T>C (p.Met117Thr)	PDCD5 (M117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305313	NM_004708.4(PDCD5):c.364G>T (p.Asp122Tyr)	PDCD5 (D122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 25