ClinVar for Gene (Select 54858) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211880	NM_017712.4(PGPEP1):c.607A>G (p.Ile203Val)	PGPEP1 (I203V +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3211879	NM_017712.4(PGPEP1):c.410C>T (p.Ser137Leu)	PGPEP1 (S137L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550686	NM_017712.4(PGPEP1):c.481C>T (p.His161Tyr)	PGPEP1 (S83L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2546660	NM_017712.4(PGPEP1):c.230G>C (p.Gly77Ala)	PGPEP1 (G77A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2524519	NM_017712.4(PGPEP1):c.223G>C (p.Val75Leu)	PGPEP1 (V75L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2479033	NM_017712.4(PGPEP1):c.406G>A (p.Val136Met)	PGPEP1 (V59M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	LSM4, MAST3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2387451	NM_017712.4(PGPEP1):c.325G>A (p.Val109Met)	PGPEP1 (V32M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379793	NM_017712.4(PGPEP1):c.298C>T (p.Arg100Cys)	PGPEP1 (R23C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346089	NM_017712.4(PGPEP1):c.350A>G (p.Asp117Gly)	PGPEP1 (D40G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311815	NM_017712.4(PGPEP1):c.20C>A (p.Ala7Glu)	PGPEP1 (A7E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303356	NM_017712.4(PGPEP1):c.271A>C (p.Lys91Gln)	PGPEP1 (K14Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297950	NM_017712.4(PGPEP1):c.118G>A (p.Val40Met)	PGPEP1 (V40M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245818	NM_017712.4(PGPEP1):c.67G>A (p.Ala23Thr)	PGPEP1 (A23T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1526658	GRCh37/hg19 19p13.11(chr19:18327675-18543341)	GDF15, IQCN +6 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 161710	NM_017712.4(PGPEP1):c.434G>A (p.Gly145Asp)	PGPEP1 (G145D +1 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	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 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 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

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Links from Gene

Items: 25