"GeneDx"[submitter] AND "ZNF423"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 260537	NM_001379286.1(ZNF423):c.3850-9C>T	ZNF423	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1231602	NM_001379286.1(ZNF423):c.3850-23G>A	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292296	NM_001379286.1(ZNF423):c.3849+94T>G	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245209	NM_001379286.1(ZNF423):c.3849+53G>A	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259240	NM_001379286.1(ZNF423):c.3733+108G>A	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293971	NM_001379286.1(ZNF423):c.3601+55T>C	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426244	NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu)	ZNF423 (P1088L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2574302	NM_001379286.1(ZNF423):c.3436C>G (p.His1146Asp)	ZNF423 (H1021D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426779	NM_001379286.1(ZNF423):c.3301G>A (p.Ala1101Thr)	ZNF423 (A1033T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 280335	NM_001379286.1(ZNF423):c.3189dup (p.Asn1064fs)	ZNF423 (N939fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1810691	NM_001379286.1(ZNF423):c.3106_3109del (p.Thr1036fs)	ZNF423 (T1036fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 450244	NM_001379286.1(ZNF423):c.2702C>T (p.Ala901Val)	ZNF423 (A833V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 841969	NM_001379286.1(ZNF423):c.2683G>A (p.Gly895Ser)	ZNF423 (G827S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 260528	NM_001379286.1(ZNF423):c.2562C>A (p.Pro854=)	ZNF423	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 955954	NM_001379286.1(ZNF423):c.2548G>A (p.Ala850Thr)	ZNF423 (A842T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450243	NM_001379286.1(ZNF423):c.2480T>A (p.Ile827Asn)	ZNF423 (I759N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260524	NM_001379286.1(ZNF423):c.1910A>G (p.Asn637Ser)	ZNF423 (N569S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 260522	NM_001379286.1(ZNF423):c.1569T>C (p.Asn523=)	ZNF423	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1053189	NM_001379286.1(ZNF423):c.1522C>T (p.Arg508Cys)	ZNF423 (R383C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 843622	NM_001379286.1(ZNF423):c.1217G>A (p.Arg406Gln)	ZNF423 (R281Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 197823	NM_001379286.1(ZNF423):c.1168T>C (p.Ser390Pro)	ZNF423 (S322P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310559	NM_001379286.1(ZNF423):c.495G>T (p.Glu165Asp)	ZNF423 (E157D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302934	NM_001379286.1(ZNF423):c.395A>G (p.Asp132Gly)	ZNF423 (D124G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420898	NM_001379286.1(ZNF423):c.389G>T (p.Gly130Val)	ZNF423 (G122V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1239696	NM_001379286.1(ZNF423):c.101-66G>A	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259542	NM_001379286.1(ZNF423):c.100+159C>T	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260153	NM_001379286.1(ZNF423):c.40+32955C>G	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177775	NM_001379286.1(ZNF423):c.40+32859A>G	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 32