ClinVar for MedGen (Select 761313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065772	NM_001379286.1(ZNF423):c.302A>T (p.Asp101Val)	ZNF423 (D101V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 14	GUncertain significance
Select item 3021363	NM_001379286.1(ZNF423):c.3849+16C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 3011161	NM_001379286.1(ZNF423):c.2529T>C (p.Ala843=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 3008992	NM_001379286.1(ZNF423):c.100+18G>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2966976	NM_001379286.1(ZNF423):c.1297C>T (p.Leu433=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2957053	NM_001379286.1(ZNF423):c.3465G>A (p.Thr1155=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2919830	NM_001379286.1(ZNF423):c.3601+8A>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2918163	NM_001379286.1(ZNF423):c.921C>T (p.His307=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2917349	NM_001379286.1(ZNF423):c.3402T>C (p.Ser1134=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2916225	NM_001379286.1(ZNF423):c.702G>A (p.Val234=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2913137	NM_001379286.1(ZNF423):c.867C>T (p.His289=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2905019	NM_001379286.1(ZNF423):c.41-18C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 2900004	NM_001379286.1(ZNF423):c.2503C>A (p.Arg835=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2893791	NM_001379286.1(ZNF423):c.1101T>C (p.Pro367=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2885077	NM_001379286.1(ZNF423):c.400G>A (p.Gly134Ser)	ZNF423 (G126S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2875456	NM_001379286.1(ZNF423):c.40+33072A>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2855850	NM_001379286.1(ZNF423):c.3870C>T (p.His1290=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2847121	NM_001379286.1(ZNF423):c.746T>C (p.Met249Thr)	ZNF423 (M181T +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2839693	NM_001379286.1(ZNF423):c.546C>T (p.Leu182=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2838858	NM_001379286.1(ZNF423):c.3408G>A (p.Lys1136=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2825845	NM_001379286.1(ZNF423):c.2934G>T (p.Ser978=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2825167	NM_001379286.1(ZNF423):c.3850-11C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2820841	NM_001379286.1(ZNF423):c.1044C>T (p.Cys348=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2820472	NM_001379286.1(ZNF423):c.3657C>T (p.Ala1219=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2807767	NM_001379286.1(ZNF423):c.3005A>G (p.Lys1002Arg)	ZNF423 (K1002R +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2805671	NM_001379286.1(ZNF423):c.40+33080C>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2805423	NM_001379286.1(ZNF423):c.2312_2329del (p.Ala771_His776del)	ZNF423	Deletion (inframe_deletion)	Nephronophthisis 14	GUncertain significance
Select item 2803516	NM_001379286.1(ZNF423):c.1755C>T (p.Ile585=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2802461	NM_001379286.1(ZNF423):c.1884C>T (p.Leu628=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2781390	NM_001379286.1(ZNF423):c.1509G>C (p.Leu503=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2781285	NM_001379286.1(ZNF423):c.3602-32_3602-13dup	ZNF423	Duplication (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2772733	NM_001379286.1(ZNF423):c.432G>A (p.Leu144=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2771598	NM_001379286.1(ZNF423):c.2439G>A (p.Lys813=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2769489	NM_001379286.1(ZNF423):c.1432C>T (p.Pro478Ser)	ZNF423 (P470S +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2765632	NM_001379286.1(ZNF423):c.3315C>T (p.Ala1105=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2765470	NM_001379286.1(ZNF423):c.3734-19C>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2757511	NM_001379286.1(ZNF423):c.1842C>G (p.Val614=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2756343	NM_001379286.1(ZNF423):c.1299G>A (p.Leu433=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2756231	NM_001379286.1(ZNF423):c.57C>G (p.Ala19=)	ZNF423	Single nucleotide variant (5 prime UTR variant +1 more)	Nephronophthisis 14	GLikely benign
Select item 2741995	NM_001379286.1(ZNF423):c.1545C>T (p.Asn515=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2740105	NM_001379286.1(ZNF423):c.3292G>A (p.Gly1098Ser)	ZNF423 (G973S +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2739860	NM_001379286.1(ZNF423):c.1152C>T (p.Ala384=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2739859	NM_001379286.1(ZNF423):c.1983G>C (p.Leu661=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2734857	NM_001379286.1(ZNF423):c.1305C>T (p.Ile435=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2733325	NM_001379286.1(ZNF423):c.1173C>T (p.Thr391=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2728846	NM_001379286.1(ZNF423):c.248A>G (p.Asp83Gly)	ZNF423 (D75G +2 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2721655	NM_001379286.1(ZNF423):c.741C>T (p.Ser247=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2714200	NM_001379286.1(ZNF423):c.984C>T (p.Asn328=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2714027	NM_001379286.1(ZNF423):c.3384C>A (p.Leu1128=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2696184	NM_001379286.1(ZNF423):c.1575C>T (p.Phe525=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2581159	NM_001379286.1(ZNF423):c.2873A>C (p.Gln958Pro)	ZNF423 (Q833P +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2438685	NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GConflicting classifications of pathogenicity
Select item 2438684	NM_001379286.1(ZNF423):c.1688C>T (p.Pro563Leu)	ZNF423 (P438L +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2426050	NC_000016.9:g.(?_49823378)_(49856596_?)dup	ZNF423	Duplication	Nephronophthisis 14	GUncertain significance
Select item 2426049	NC_000016.9:g.(?_49525186)_(51631253_?)dup	ADCY7, BRD7 +9 more	Duplication	Nephronophthisis 14	GUncertain significance
Select item 2426048	NC_000016.9:g.(?_49525186)_(51631253_?)del	ADCY7, BRD7 +9 more	Deletion	Townes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2419243	NM_001379286.1(ZNF423):c.2666C>T (p.Ala889Val)	ZNF423 (A764V +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2200244	NM_001379286.1(ZNF423):c.301+8A>C	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2198991	NM_001379286.1(ZNF423):c.3703G>A (p.Gly1235Ser)	ZNF423 (G1227S +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2195829	NM_001379286.1(ZNF423):c.2335C>T (p.His779Tyr)	ZNF423 (H779Y +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2192203	NM_001379286.1(ZNF423):c.1276G>A (p.Asp426Asn)	ZNF423 (D301N +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2191972	NM_001379286.1(ZNF423):c.3240G>A (p.Glu1080=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2189246	NM_001379286.1(ZNF423):c.588T>C (p.His196=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2189245	NM_001379286.1(ZNF423):c.949A>G (p.Thr317Ala)	ZNF423 (T192A +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2184280	NM_001379286.1(ZNF423):c.2682C>T (p.Tyr894=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2183152	NM_001379286.1(ZNF423):c.1329C>T (p.Asp443=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2182896	NM_001379286.1(ZNF423):c.3188C>G (p.Pro1063Arg)	ZNF423 (P995R +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2182361	NM_001379286.1(ZNF423):c.2172C>A (p.Thr724=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2181388	NM_001379286.1(ZNF423):c.2604C>T (p.Gly868=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GUncertain significance
Select item 2179243	NM_001379286.1(ZNF423):c.1193C>G (p.Pro398Arg)	ZNF423 (P330R +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2174008	NM_001379286.1(ZNF423):c.3517-19A>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2173763	NM_001379286.1(ZNF423):c.3179C>T (p.Ala1060Val)	ZNF423 (A992V +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2172628	NM_001379286.1(ZNF423):c.1216C>A (p.Arg406=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2167808	NM_001379286.1(ZNF423):c.1860G>T (p.Val620=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2167683	NM_001379286.1(ZNF423):c.1854G>A (p.Val618=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2166947	NM_001379286.1(ZNF423):c.3850-10G>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2163609	NM_001379286.1(ZNF423):c.2861G>A (p.Arg954Gln)	ZNF423 (R946Q +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2157651	NM_001379286.1(ZNF423):c.2759G>A (p.Arg920Gln)	ZNF423 (R795Q +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14 +1 more	GUncertain significance
Select item 2157417	NM_001379286.1(ZNF423):c.2991C>T (p.Thr997=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2157147	NM_001379286.1(ZNF423):c.1273C>A (p.Arg425=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2156812	NM_001379286.1(ZNF423):c.302-13C>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2156764	NM_001379286.1(ZNF423):c.3273C>T (p.Asp1091=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2156254	NM_001379286.1(ZNF423):c.898A>G (p.Lys300Glu)	ZNF423 (K292E +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2150341	NM_001379286.1(ZNF423):c.738G>A (p.Gln246=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2147434	NM_001379286.1(ZNF423):c.2142C>A (p.Asp714Glu)	ZNF423 (D646E +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2147304	NM_001379286.1(ZNF423):c.1395C>T (p.Asn465=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2145415	NM_001379286.1(ZNF423):c.1083C>A (p.His361Gln)	ZNF423 (H236Q +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2145308	NM_001379286.1(ZNF423):c.2569G>A (p.Ala857Thr)	ZNF423 (A849T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2144898	NM_001379286.1(ZNF423):c.1167C>T (p.Gly389=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2144556	NM_001379286.1(ZNF423):c.3852C>T (p.Asn1284=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2141956	NM_001379286.1(ZNF423):c.2119A>G (p.Lys707Glu)	ZNF423 (K707E +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2141723	NM_001379286.1(ZNF423):c.1473C>T (p.Asn491=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2140187	NM_001379286.1(ZNF423):c.1281T>C (p.Phe427=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2139922	NM_001379286.1(ZNF423):c.2894A>G (p.Lys965Arg)	ZNF423 (K840R +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2135033	NM_001379286.1(ZNF423):c.1343G>A (p.Ser448Asn)	ZNF423 (S448N +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2129680	NM_001379286.1(ZNF423):c.1877A>G (p.Gln626Arg)	ZNF423 (Q501R +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2127533	NM_001379286.1(ZNF423):c.3354C>G (p.Pro1118=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2127338	NM_001379286.1(ZNF423):c.1370C>T (p.Ser457Phe)	ZNF423 (S457F +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2124071	NM_001379286.1(ZNF423):c.2903T>C (p.Met968Thr)	ZNF423 (M843T +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2122847	NM_001379286.1(ZNF423):c.1749C>T (p.Gly583=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign

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