"ZNF804A-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 710899	NM_194250.2(ZNF804A):c.210G>A (p.Gln70=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder +1 more	GBenign/Likely benign
Select item 3040029	NM_194250.2(ZNF804A):c.371G>A (p.Arg124Lys)	ZNF804A (R124K)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GLikely benign
Select item 3039335	NM_194250.2(ZNF804A):c.532A>G (p.Lys178Glu)	ZNF804A (K178E)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GLikely benign
Select item 3033697	NM_194250.2(ZNF804A):c.669C>A (p.Ser223=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder	GLikely benign
Select item 3041236	NM_194250.2(ZNF804A):c.974G>T (p.Cys325Phe)	ZNF804A (C325F)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GLikely benign
Select item 3055649	NM_194250.2(ZNF804A):c.1436A>G (p.Asp479Gly)	ZNF804A (D479G)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 3055535	NM_194250.2(ZNF804A):c.1474A>G (p.Ile492Val)	ZNF804A (I492V)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 3059275	NM_194250.2(ZNF804A):c.1624G>A (p.Glu542Lys)	ZNF804A (E542K)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 218863	NM_194250.2(ZNF804A):c.1633G>A (p.Gly545Ser)	ZNF804A (G545S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3060253	NM_194250.2(ZNF804A):c.1794A>G (p.Lys598=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder	GBenign
Select item 713053	NM_194250.2(ZNF804A):c.1865C>G (p.Ala622Gly)	ZNF804A (A622G)	Single nucleotide variant (missense variant)	ZNF804A-related disorder +1 more	GBenign/Likely benign
Select item 3059400	NM_194250.2(ZNF804A):c.2120C>A (p.Thr707Lys)	ZNF804A (T707K)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 3051837	NM_194250.2(ZNF804A):c.2275A>G (p.Asn759Asp)	ZNF804A (N759D)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 3048266	NM_194250.2(ZNF804A):c.2943del (p.Gly982fs)	ZNF804A (G982fs)	Deletion (frameshift variant)	ZNF804A-related disorder	GUncertain significance
Select item 710900	NM_194250.2(ZNF804A):c.3009A>T (p.Pro1003=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder +1 more	GBenign/Likely benign
Select item 3050775	NM_194250.2(ZNF804A):c.3037A>T (p.Ser1013Cys)	ZNF804A (S1013C)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GLikely benign
Select item 1280392	NM_194250.2(ZNF804A):c.3241C>G (p.Leu1081Val)	ZNF804A (L1081V)	Single nucleotide variant (missense variant)	ZNF804A-related disorder +1 more	GBenign
Select item 3037628	NM_194250.2(ZNF804A):c.3322G>A (p.Ala1108Thr)	ZNF804A (A1108T)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 2629640	NM_194250.2(ZNF804A):c.3349G>T (p.Ala1117Ser)	ZNF804A (A1117S)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GUncertain significance
Select item 728590	NM_194250.2(ZNF804A):c.3357A>G (p.Ala1119=)	ZNF804A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3050083	NM_194250.2(ZNF804A):c.3459G>A (p.Pro1153=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder	GBenign
Select item 3051052	NM_194250.2(ZNF804A):c.3619C>T (p.Pro1207Ser)	ZNF804A (P1207S)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22