ClinVar for Gene (Select 9141) - ClinVar

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

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3305312	NM_004708.4(PDCD5):c.28A>G (p.Arg10Gly)	PDCD5 (R10G)	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 3210582	NM_004708.4(PDCD5):c.157C>T (p.Arg53Trp)	PDCD5 (R53W)	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 2532393	NM_004708.4(PDCD5):c.277A>G (p.Ile93Val)	PDCD5 (I93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2241382	NM_004708.4(PDCD5):c.158G>A (p.Arg53Gln)	PDCD5 (R53Q)	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 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 790757	NM_004708.4(PDCD5):c.46G>A (p.Glu16Lys)	PDCD5 (E16K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789118	NM_004708.4(PDCD5):c.105-7G>A	PDCD5	Single nucleotide variant (intron variant)	not provided	GBenign
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
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 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
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 58341	GRCh38/hg38 19q13.11(chr19:32469643-32843761)x1	ANKRD27, DPY19L3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 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: 25