ClinVar for Gene (Select 22809) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320465	NM_001193646.2(ATF5):c.368C>G (p.Pro123Arg)	ATF5 (P123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320454	NM_001193646.2(ATF5):c.757C>T (p.Arg253Trp)	ATF5 (R253W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130800	NM_001193646.2(ATF5):c.305C>G (p.Ala102Gly)	ATF5 (A102G)	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 2600228	NM_001193646.2(ATF5):c.578A>C (p.Gln193Pro)	ATF5 (Q193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426877	NC_000019.9:g.(?_50411496)_(50766697_?)dup	ATF5, IL4I1 +6 more	Duplication	not provided	GUncertain significance
Select item 2327163	NM_001193646.2(ATF5):c.119A>C (p.Tyr40Ser)	ATF5 (Y40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303390	NM_001193646.2(ATF5):c.134G>T (p.Gly45Val)	ATF5 (G45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213643	NM_001193646.2(ATF5):c.253C>G (p.Pro85Ala)	ATF5 (P85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526671	GRCh37/hg19 19q13.33(chr19:50355646-50552140)	AKT1S1, ATF5 +9 more	Copy number gain	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 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 782656	NM_001193646.2(ATF5):c.90C>T (p.Leu30=)	ATF5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781515	NM_001193646.2(ATF5):c.255C>A (p.Pro85=)	ATF5	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 394002	GRCh37/hg19 19q13.33(chr19:50391979-50665993)x3	ATF5, IL4I1 +6 more	Copy number gain	See cases	GUncertain significance
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

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Links from Gene

Items: 24