ClinVar for Gene (Select 114770) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305993	NM_052890.4(PGLYRP2):c.1237T>C (p.Tyr413His)	PGLYRP2 (Y413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305992	NM_052890.4(PGLYRP2):c.403C>A (p.Arg135Ser)	PGLYRP2 (R135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305991	NM_052890.4(PGLYRP2):c.767G>A (p.Arg256Gln)	PGLYRP2 (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211823	NM_052890.4(PGLYRP2):c.956G>A (p.Arg319Gln)	PGLYRP2 (R319Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211821	NM_052890.4(PGLYRP2):c.439G>T (p.Ala147Ser)	PGLYRP2 (A147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211820	NM_052890.4(PGLYRP2):c.430A>G (p.Ser144Gly)	PGLYRP2 (S144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211819	NM_052890.4(PGLYRP2):c.31G>A (p.Gly11Arg)	PGLYRP2 (G11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211818	NM_052890.4(PGLYRP2):c.1573C>A (p.Leu525Met)	PGLYRP2 (L525M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211817	NM_052890.4(PGLYRP2):c.1055A>G (p.Gln352Arg)	PGLYRP2 (Q352R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062383	GRCh37/hg19 19p13.12(chr19:15263384-15683826)x3	AKAP8, AKAP8L +7 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2613955	NM_052890.4(PGLYRP2):c.1025T>G (p.Leu342Arg)	PGLYRP2 (L342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549990	NM_052890.4(PGLYRP2):c.493G>A (p.Val165Ile)	PGLYRP2 (V165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509292	NM_052890.4(PGLYRP2):c.325G>T (p.Gly109Trp)	PGLYRP2 (G109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 2484687	NM_052890.4(PGLYRP2):c.325G>C (p.Gly109Arg)	PGLYRP2 (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472036	NM_052890.4(PGLYRP2):c.404G>A (p.Arg135His)	PGLYRP2 (R135H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2363839	NM_052890.4(PGLYRP2):c.1492A>G (p.Thr498Ala)	PGLYRP2 (T498A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361399	NM_052890.4(PGLYRP2):c.595G>A (p.Val199Ile)	PGLYRP2 (V199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341969	NM_052890.4(PGLYRP2):c.877C>T (p.Arg293Trp)	PGLYRP2 (R293W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330012	NM_052890.4(PGLYRP2):c.1295T>G (p.Met432Arg)	PGLYRP2 (M432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327933	NM_052890.4(PGLYRP2):c.1447G>A (p.Val483Met)	PGLYRP2 (V483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308805	NM_052890.4(PGLYRP2):c.1400G>A (p.Gly467Asp)	PGLYRP2 (G467D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288335	NM_052890.4(PGLYRP2):c.698G>C (p.Arg233Pro)	PGLYRP2 (R233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246594	NM_052890.4(PGLYRP2):c.1678A>G (p.Arg560Gly)	PGLYRP2 (R560G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2233956	NM_052890.4(PGLYRP2):c.1199T>C (p.Leu400Pro)	PGLYRP2 (L400P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226471	NM_052890.4(PGLYRP2):c.1668T>G (p.Ser556Arg)	PGLYRP2 (S556R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2218542	NM_052890.4(PGLYRP2):c.674G>A (p.Gly225Glu)	PGLYRP2 (G225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209536	NM_052890.4(PGLYRP2):c.304G>A (p.Val102Ile)	PGLYRP2 (V102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526657	GRCh37/hg19 19p13.12(chr19:15184922-15582812)	BRD4, EPHX3 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 720778	NM_052890.4(PGLYRP2):c.701G>T (p.Gly234Val)	PGLYRP2 (G234V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687104	GRCh37/hg19 19p13.12(chr19:15338105-15668026)x1	AKAP8, AKAP8L +6 more	Copy number loss	not provided	GUncertain significance
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 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 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 60272	GRCh38/hg38 19p13.12(chr19:15227306-15496644)x3	AKAP8, AKAP8L +27 more	Copy number gain	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 45