PGLS[gene] - ClinVar

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Items: 51

	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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 3211814	NM_012088.3(PGLS):c.7G>A (p.Ala3Thr)	PGLS, PGLS-DT (A3T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211808	NM_012088.3(PGLS):c.13G>A (p.Ala5Thr)	PGLS, PGLS-DT (A5T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3305984	NM_012088.3(PGLS):c.20G>A (p.Gly7Asp)	PGLS, PGLS-DT (G7D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3380598	NM_012088.3(PGLS):c.22C>T (p.Leu8Phe)	PGLS, PGLS-DT (L8F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2346594	NM_012088.3(PGLS):c.31G>A (p.Val11Met)	PGLS, PGLS-DT (V11M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211812	NM_012088.3(PGLS):c.42T>G (p.Ser14Arg)	PGLS, PGLS-DT (S14R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616826	NM_012088.3(PGLS):c.112C>G (p.Arg38Gly)	PGLS, PGLS-DT (R38G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481094	NM_012088.3(PGLS):c.119G>A (p.Arg40His)	PGLS, PGLS-DT (R40H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384625	NM_012088.3(PGLS):c.127C>G (p.Leu43Val)	PGLS, PGLS-DT (L43V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2542018	NM_012088.3(PGLS):c.147C>A (p.Ser49Arg)	PGLS, PGLS-DT (S49R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364970	NM_012088.3(PGLS):c.169G>A (p.Glu57Lys)	LOC130063946, PGLS +1 more (E57K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2270249	NM_012088.3(PGLS):c.193G>A (p.Ala65Thr)	LOC130063946, PGLS +1 more (A65T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211809	NM_012088.3(PGLS):c.236A>C (p.Asp79Ala)	PGLS (D79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305987	NM_012088.3(PGLS):c.241C>G (p.Arg81Gly)	PGLS (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494279	NM_012088.3(PGLS):c.251C>T (p.Pro84Leu)	PGLS (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468305	NM_012088.3(PGLS):c.255C>G (p.Phe85Leu)	PGLS (F85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305986	NM_012088.3(PGLS):c.271A>T (p.Thr91Ser)	PGLS (T91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211810	NM_012088.3(PGLS):c.305G>A (p.Arg102Lys)	PGLS (R102K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525441	NM_012088.3(PGLS):c.311C>T (p.Pro104Leu)	PGLS (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245436	NM_012088.3(PGLS):c.316C>G (p.Pro106Ala)	PGLS (P106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211811	NM_012088.3(PGLS):c.342C>A (p.Asn114Lys)	PGLS (N114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213204	NM_012088.3(PGLS):c.343C>G (p.Pro115Ala)	PGLS (P115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616497	NM_012088.3(PGLS):c.356T>C (p.Val119Ala)	PGLS (V119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305985	NM_012088.3(PGLS):c.365C>T (p.Ala122Val)	PGLS (A122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3380599	NM_012088.3(PGLS):c.375C>G (p.Asp125Glu)	PGLS (D125E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380600	NM_012088.3(PGLS):c.427G>A (p.Asp143Asn)	PGLS (D143N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296012	NM_012088.3(PGLS):c.454G>A (p.Asp152Asn)	PGLS (D152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3380601	NM_012088.3(PGLS):c.502C>T (p.Arg168Trp)	PGLS (R168W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3305988	NM_012088.3(PGLS):c.502C>G (p.Arg168Gly)	PGLS (R168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602543	NM_012088.3(PGLS):c.508A>G (p.Lys170Glu)	PGLS (K170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303042	NM_012088.3(PGLS):c.512T>C (p.Ile171Thr)	PGLS (I171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373317	NM_012088.3(PGLS):c.554G>A (p.Arg185His)	PGLS (R185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298133	NM_012088.3(PGLS):c.592A>C (p.Thr198Pro)	PGLS (T198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211813	NM_012088.3(PGLS):c.595G>A (p.Val199Ile)	PGLS (V199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473075	NM_012088.3(PGLS):c.620G>A (p.Gly207Asp)	PGLS (G207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311154	NM_012088.3(PGLS):c.698C>T (p.Thr233Ile)	PGLS (T233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495052	NM_012088.3(PGLS):c.700G>A (p.Gly234Arg)	PGLS (G234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544052	NM_012088.3(PGLS):c.721G>A (p.Asp241Asn)	PGLS (D241N)	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 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)	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 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253947	GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3	NIBAN3, PGLS-DT +10 more	Copy number gain	See cases	GUncertain significance

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Items: 51