ClinVar for Gene (Select 100506012) - ClinVar

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

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217876	NR_172902.1(PPP5D1):n.296G>A	PPP5D1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3217875	NR_172902.1(PPP5D1):n.251C>T	PPP5D1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3217873	NR_172902.1(PPP5D1):n.104C>G	PPP5D1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2494621	NR_172902.1(PPP5D1):n.80C>A	PPP5D1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2231133	NR_172902.1(PPP5D1):n.179A>C	PPP5D1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	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 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 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 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance

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: 21