ClinVar for Gene (Select 2359) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279720	NM_002030.5(FPR3):c.1039G>C (p.Glu347Gln)	FPR3, ZNF577 (E347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279719	NM_002030.5(FPR3):c.55C>T (p.Pro19Ser)	FPR3, ZNF577 (P19S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096669	NM_002030.5(FPR3):c.387T>G (p.His129Gln)	FPR3, ZNF577 (H129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096668	NM_002030.5(FPR3):c.370T>A (p.Cys124Ser)	FPR3, ZNF577 (C124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096667	NM_002030.5(FPR3):c.278T>C (p.Phe93Ser)	FPR3, ZNF577 (F93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096666	NM_002030.5(FPR3):c.256G>A (p.Ala86Thr)	FPR3, ZNF577 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096665	NM_002030.5(FPR3):c.104T>A (p.Val35Asp)	FPR3, ZNF577 (V35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2619344	NM_002030.5(FPR3):c.238T>C (p.Phe80Leu)	FPR3, ZNF577 (F80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495891	NM_002030.5(FPR3):c.731C>T (p.Ala244Val)	FPR3, ZNF577 (A244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466635	NM_002030.5(FPR3):c.461T>C (p.Ile154Thr)	FPR3, ZNF577 (I154T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403485	NM_002030.5(FPR3):c.100G>A (p.Gly34Arg)	FPR3, ZNF577 (G34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355742	NM_002030.5(FPR3):c.509C>T (p.Thr170Met)	FPR3, ZNF577 (T170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345627	NM_002030.5(FPR3):c.820A>T (p.Asn274Tyr)	FPR3, ZNF577 (N274Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345150	NM_002030.5(FPR3):c.70G>A (p.Val24Ile)	FPR3, ZNF577 (V24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324568	NM_002030.5(FPR3):c.79A>T (p.Ile27Phe)	FPR3, ZNF577 (I27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302989	NM_002030.5(FPR3):c.652A>G (p.Thr218Ala)	FPR3, ZNF577 (T218A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251482	NM_002030.5(FPR3):c.907G>A (p.Val303Ile)	FPR3, ZNF577 (V303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228220	NM_002030.5(FPR3):c.772G>A (p.Glu258Lys)	FPR3, ZNF577 (E258K)	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 1340619	GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	CEACAM18, CLDND2 +21 more	Copy number gain	not provided	GUncertain significance
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 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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 394217	GRCh37/hg19 19q13.41(chr19:52224551-52328897)x3	FPR1, FPR2 +2 more	Copy number gain	See cases	GBenign
Select item 221886	GRCh37/hg19 19q13.41(chr19:52272131-52588718)x3	ZNF613, ZNF614 +8 more	Copy number gain	Premature ovarian failure	GBenign
Select item 157458	NM_001005738.1(FPR2):c.290_344331dup	FPR2, FPR3 +20 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 154882	GRCh38/hg38 19q13.41(chr19:51785545-52075049)x3	FPR3, LOC126862921 +16 more	Copy number gain	See cases	GLikely benign
Select item 154637	GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3	FPR2, FPR3 +20 more	Copy number gain	See cases	GBenign
Select item 149471	GRCh38/hg38 19q13.41(chr19:51681235-51936423)x3	FPR1, FPR2 +15 more	Copy number gain	See cases	GLikely benign
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 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
Select item 58803	GRCh38/hg38 19q13.41(chr19:51824349-52113443)x3	FPR3, LOC126862921 +18 more	Copy number gain	See cases	GUncertain significance
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41