"ZNF423-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 767050	NM_001379286.1(ZNF423):c.3875A>C (p.Gln1292Pro)	ZNF423 (Q1167P +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14 +2 more	GLikely benign
Select item 1375504	NM_001379286.1(ZNF423):c.3739G>A (p.Val1247Ile)	ZNF423 (V1122I +3 more)	Single nucleotide variant (missense variant)	ZNF423-related condition +1 more	GUncertain significance
Select item 1145722	NM_001379286.1(ZNF423):c.3734-8G>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 724108	NM_001379286.1(ZNF423):c.3702C>T (p.Gly1234=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 1951104	NM_001379286.1(ZNF423):c.3555C>T (p.Phe1185=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 283796	NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=)	ZNF423	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 473061	NM_001379286.1(ZNF423):c.3180G>A (p.Ala1060=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GBenign
Select item 1151978	NM_001379286.1(ZNF423):c.2952A>G (p.Glu984=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 784798	NM_001379286.1(ZNF423):c.2949C>T (p.Thr983=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 1649895	NM_001379286.1(ZNF423):c.2769G>A (p.Glu923=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 1084449	NM_001379286.1(ZNF423):c.2670G>A (p.Ser890=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 3011161	NM_001379286.1(ZNF423):c.2529T>C (p.Ala843=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 1079914	NM_001379286.1(ZNF423):c.2475C>T (p.His825=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 1447884	NM_001379286.1(ZNF423):c.2283G>A (p.Thr761=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 1120651	NM_001379286.1(ZNF423):c.2214C>T (p.Asp738=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 1623638	NM_001379286.1(ZNF423):c.2211C>T (p.Phe737=)	ZNF423	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2085512	NM_001379286.1(ZNF423):c.2088G>A (p.Thr696=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 859727	NM_001379286.1(ZNF423):c.2006A>C (p.Lys669Thr)	ZNF423 (K661T +3 more)	Single nucleotide variant (missense variant)	ZNF423-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1166110	NM_001379286.1(ZNF423):c.1827C>T (p.Ala609=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GBenign/Likely benign
Select item 197817	NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)	ZNF423 (G484V +3 more)	Single nucleotide variant (missense variant)	ZNF423-related condition +2 more	GConflicting classifications of pathogenicity
Select item 473056	NM_001379286.1(ZNF423):c.1560C>T (p.Asp520=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GBenign/Likely benign
Select item 1090681	NM_001379286.1(ZNF423):c.1524C>T (p.Arg508=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 781324	NM_001379286.1(ZNF423):c.1368C>T (p.Asp456=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 540275	NM_001379286.1(ZNF423):c.1326G>A (p.Ala442=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GBenign/Likely benign
Select item 743684	NM_001379286.1(ZNF423):c.1176G>C (p.Pro392=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 770101	NM_001379286.1(ZNF423):c.1113C>T (p.Ser371=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 2721655	NM_001379286.1(ZNF423):c.741C>T (p.Ser247=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 772465	NM_001379286.1(ZNF423):c.615C>T (p.His205=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 755326	NM_001379286.1(ZNF423):c.492C>T (p.His164=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +2 more	GLikely benign
Select item 2629464	NM_001379286.1(ZNF423):c.470G>A (p.Arg157His)	ZNF423 (R149H +3 more)	Single nucleotide variant (missense variant)	ZNF423-related condition	GUncertain significance
Select item 716577	NM_001379286.1(ZNF423):c.426G>A (p.Thr142=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 260531	NM_001379286.1(ZNF423):c.312C>T (p.Asp104=)	ZNF423	Single nucleotide variant (synonymous variant +1 more)	ZNF423-related condition +1 more	GBenign
Select item 1090059	NM_001379286.1(ZNF423):c.231C>T (p.Cys77=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 771559	NM_001379286.1(ZNF423):c.100+8C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 2629079	NM_001379286.1(ZNF423):c.49G>A (p.Gly17Arg)	ZNF423 (G17R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF423-related condition	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: 35