ATF3[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	ANGEL2, ATF3 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 2248803	NM_001674.4(ATF3):c.34T>C (p.Ser12Pro)	ATF3 (S12P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570076	NM_001674.4(ATF3):c.58G>A (p.Val20Ile)	ATF3 (V20I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401400	NM_001674.4(ATF3):c.71C>G (p.Ser24Cys)	ATF3 (S24C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3041761	NM_001674.4(ATF3):c.72C>T (p.Ser24=)	ATF3	Single nucleotide variant (synonymous variant +2 more)	ATF3-related disorder	GLikely benign
Select item 2401401	NM_001674.4(ATF3):c.76C>T (p.Pro26Ser)	ATF3 (P26S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130790	NM_001674.4(ATF3):c.94G>A (p.Glu32Lys)	ATF3 (E32K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228229	NM_001674.4(ATF3):c.124A>G (p.Lys42Glu)	ATF3 (K42E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602380	NM_001674.4(ATF3):c.159C>T (p.His53=)	ATF3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2457156	NM_001674.4(ATF3):c.160C>T (p.Leu54Phe)	ATF3 (L25F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486822	NM_001674.4(ATF3):c.245C>T (p.Ala82Val)	ATF3 (A53V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130788	NM_001674.4(ATF3):c.333G>A (p.Thr111=)	ATF3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2619863	NM_001674.4(ATF3):c.343C>G (p.Gln115Glu)	ATF3 (Q115E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741892	NM_001674.4(ATF3):c.375T>C (p.Asn125=)	ATF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3130789	NM_001674.4(ATF3):c.436C>T (p.Leu146Phe)	ATF3 (L89F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525149	NM_001674.4(ATF3):c.503A>T (p.Asn168Ile)	ATF3 (N168I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374053	NM_001674.4(ATF3):c.512T>C (p.Ile171Thr)	ATF3 (I171T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038017	NM_001674.4(ATF3):c.*6C>T	ATF3	Single nucleotide variant (3 prime UTR variant)	ATF3-related disorder	GBenign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 37