"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193174	NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)	ZNF469 (P153A)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1209874	NM_001367624.2(ZNF469):c.723T>C (p.Asn241=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 320857	NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile)	ZNF469 (S242I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1299792	NM_001367624.2(ZNF469):c.726C>T (p.Ser242=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 429651	NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)	ZNF469 (P495S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 372949	NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)	ZNF469 (V537M)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 320869	NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)	ZNF469 (S539C)	Single nucleotide variant (missense variant)	ZNF469-related condition +4 more	GConflicting classifications of pathogenicity
Select item 320875	NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 320881	NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 282944	NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)	ZNF469 (L757R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 286776	NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)	ZNF469 (R766Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1209944	NM_001367624.2(ZNF469):c.2322C>T (p.Pro774=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 424389	NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)	ZNF469 (L885V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 383776	NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 320905	NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 493198	NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)	ZNF469 (R1114L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 320917	NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr)	ZNF469 (P1400T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 281900	NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)	ZNF469 (T1491M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 506392	NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val)	ZNF469 (A1669V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1210025	NM_001367624.2(ZNF469):c.5340C>T (p.Pro1780=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 282945	NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)	ZNF469	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 426323	NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)	ZNF469 (P1805H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 389579	NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related condition +5 more	GBenign/Likely benign
Select item 281671	NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)	ZNF469 (P2423T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 386530	NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)	ZNF469 (K2559E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 514019	NM_001367624.2(ZNF469):c.7850G>A (p.Arg2617Gln)	ZNF469 (R2617Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320986	NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)	ZNF469 (H2782Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 321000	NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)	ZNF469 (M3002L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 126934	NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 506879	NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala)	ZNF469 (G3443A)	Single nucleotide variant (missense variant)	ZNF469-related condition +4 more	GBenign/Likely benign
Select item 389957	NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related condition +4 more	GBenign/Likely benign
Select item 421677	NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys)	ZNF469 (R3630C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 32