ClinVar for Gene (Select 5639) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310590	NM_000951.3(PRRG2):c.491C>G (p.Pro164Arg)	PRRG2 (P164R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310589	NM_000951.3(PRRG2):c.577C>T (p.Pro193Ser)	LOC130064928, PRRG2 (P170S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310588	NM_000951.3(PRRG2):c.259A>G (p.Thr87Ala)	PRRG2 (T64A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310587	NM_000951.3(PRRG2):c.350G>T (p.Gly117Val)	PRRG2 (G117V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310586	NM_000951.3(PRRG2):c.581C>T (p.Pro194Leu)	LOC130064928, PRRG2 (P194L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3219725	NM_000951.3(PRRG2):c.502C>A (p.Pro168Thr)	PRRG2 (P168T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219724	NM_000951.3(PRRG2):c.373G>T (p.Gly125Cys)	PRRG2 (G102C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219723	NM_000951.3(PRRG2):c.266G>A (p.Arg89His)	PRRG2 (R66H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219721	NM_000951.3(PRRG2):c.149C>A (p.Ala50Asp)	PRRG2 (A50D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2513092	NM_000951.3(PRRG2):c.580C>T (p.Pro194Ser)	LOC130064928, PRRG2 (P171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507722	NM_000951.3(PRRG2):c.101C>G (p.Pro34Arg)	PRRG2 (P34R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467073	NM_000951.3(PRRG2):c.100C>T (p.Pro34Ser)	PRRG2 (P11S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462937	NM_000951.3(PRRG2):c.97G>A (p.Gly33Ser)	PRRG2 (G10S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375175	NM_000951.3(PRRG2):c.325A>T (p.Ser109Cys)	PRRG2 (S86C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368898	NM_000951.3(PRRG2):c.404G>A (p.Arg135Gln)	PRRG2 (R112Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353254	NM_000951.3(PRRG2):c.580C>G (p.Pro194Ala)	LOC130064928, PRRG2 (P171A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341674	NM_000951.3(PRRG2):c.475C>G (p.Leu159Val)	PRRG2 (L136V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339371	NM_000951.3(PRRG2):c.373G>A (p.Gly125Ser)	PRRG2 (G125S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320403	NM_000951.3(PRRG2):c.398G>A (p.Arg133His)	PRRG2 (R110H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310323	NM_000951.3(PRRG2):c.478G>C (p.Gly160Arg)	PRRG2 (G137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276813	NM_000951.3(PRRG2):c.229G>A (p.Ala77Thr)	PRRG2 (A54T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230311	NM_000951.3(PRRG2):c.164T>C (p.Leu55Pro)	PRRG2 (L32P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1220535	GRCh37/hg19 19q13.33(chr19:50071364-50165942)x1	IRF3, NOSIP +4 more	Copy number loss	See cases	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
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 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36