"GeneDx"[submitter] AND "WDR35"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333367	NM_020779.4(WDR35):c.*231C>A	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333368	NM_020779.4(WDR35):c.*98T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GBenign
Select item 1338942	NM_020779.4(WDR35):c.*6T>G	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1702727	NM_020779.4(WDR35):c.3367G>A (p.Glu1123Lys)	WDR35 (E1123K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217811	NM_020779.4(WDR35):c.3363-72del	WDR35	Deletion (intron variant)	not provided	GLikely benign
Select item 2028774	NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)	WDR35 (K1108E +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GUncertain significance
Select item 333369	NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)	WDR35 (Q1104H +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 333370	NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)	WDR35 (C1076S +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +3 more	GUncertain significance
Select item 668321	NM_020779.4(WDR35):c.3122-3T>C	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 333371	NM_020779.4(WDR35):c.3121+12A>C	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GBenign
Select item 283797	NM_020779.4(WDR35):c.3121+3G>A	WDR35	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 3252312	NM_020779.4(WDR35):c.3071T>G (p.Leu1024Arg)	WDR35 (L1024R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706685	NM_020779.4(WDR35):c.3043G>A (p.Gly1015Arg)	WDR35 (G1015R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333372	NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)	WDR35 (T1020R +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GUncertain significance
Select item 440414	NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys)	WDR35 (R1018C +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GBenign
Select item 1189545	NM_020779.4(WDR35):c.2965-29C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216905	NM_020779.4(WDR35):c.2965-72T>C	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182896	NM_020779.4(WDR35):c.2964+243T>G	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 838113	NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln)	WDR35 (R979Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 167844	NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)	WDR35 (E983G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 167846	NM_020779.4(WDR35):c.2824-14G>T	WDR35	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188178	NM_020779.4(WDR35):c.2824-220A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273585	NM_020779.4(WDR35):c.2823+57A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 195803	NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)	WDR35 (Y937C +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 333377	NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)	WDR35 (L904S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1327290	NM_020779.4(WDR35):c.2663A>G (p.Asn888Ser)	WDR35 (N888S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217930	NM_020779.4(WDR35):c.2659-244C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200394	NM_020779.4(WDR35):c.2659-312_2659-311del	WDR35	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1296632	NM_020779.4(WDR35):c.2658+153G>A	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221231	NM_020779.4(WDR35):c.2658+49T>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 333378	NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr)	WDR35 (A878T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 774100	NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)	LOC129933186, WDR35 (V869A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93463	NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)	LOC129933186, WDR35 (V867F +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1696886	NM_020779.4(WDR35):c.2555C>T (p.Ala852Val)	LOC129933186, WDR35 (A852V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230063	NM_020779.4(WDR35):c.2548-74G>A	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227777	NM_020779.4(WDR35):c.2548-201C>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303805	NM_020779.4(WDR35):c.2528A>G (p.Glu843Gly)	WDR35 (E843G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451431	NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser)	WDR35 (P853S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 256877	NM_020779.4(WDR35):c.2496A>G (p.Glu832=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GBenign
Select item 446645	NM_020779.4(WDR35):c.2489A>T (p.Asp830Val)	WDR35 (D841V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1328583	NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys)	WDR35 (R820C +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GUncertain significance
Select item 1372547	NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly)	WDR35 (E830G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 951090	NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln)	WDR35 (R816Q +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GUncertain significance
Select item 451432	NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp)	WDR35 (R827W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1522265	NM_020779.4(WDR35):c.2415-2A>G	WDR35	Single nucleotide variant (splice acceptor variant)	Cranioectodermal dysplasia 2 +2 more	GLikely pathogenic
Select item 1260102	NM_020779.4(WDR35):c.2415-186T>A	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262042	NM_020779.4(WDR35):c.2415-269_2415-268insTTA	WDR35	Insertion (intron variant)	not provided	GBenign
Select item 1245185	NM_020779.4(WDR35):c.2414+242C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193267	NM_020779.4(WDR35):c.2414+20C>T	WDR35	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1218545	NM_020779.4(WDR35):c.2268-131A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266119	NM_020779.4(WDR35):c.2268-166C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271757	NM_020779.4(WDR35):c.2267+258A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 333383	NM_020779.4(WDR35):c.2262C>T (p.Asp754=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GBenign/Likely benign
Select item 811792	NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys)	WDR35 (R722C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1046023	NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu)	WDR35 (I717L +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 195468	NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)	WDR35 (I728V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1211403	NM_020779.4(WDR35):c.2129G>A (p.Arg710His)	WDR35 (R710H +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 1193391	NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys)	WDR35 (R710C +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GUncertain significance
Select item 212590	NM_020779.4(WDR35):c.2066G>A (p.Arg689His)	WDR35 (R700H +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 1210814	NM_020779.4(WDR35):c.2064-140T>G	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224696	NM_020779.4(WDR35):c.2064-157A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392433	NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala)	WDR35 (P655A +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GUncertain significance
Select item 1195582	NM_020779.4(WDR35):c.1926+235A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 65619	NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	WDR35 (L641* +1 more)	Single nucleotide variant (nonsense)	WDR35-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 333388	NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser)	WDR35 (I635S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 1261886	NM_020779.4(WDR35):c.1846-192A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695690	NM_020779.4(WDR35):c.1775A>G (p.Lys592Arg)	WDR35 (K592R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1075625	NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter)	WDR35 (R564* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1032519	NM_020779.4(WDR35):c.1637G>A (p.Arg546His)	WDR35 (R557H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 333391	NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)	WDR35 (R557C +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +5 more	GUncertain significance
Select item 1197965	NM_020779.4(WDR35):c.1634+176G>A	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 333392	NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)	WDR35 (R545Q +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GBenign/Likely benign
Select item 333393	NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)	WDR35 (L542V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93462	NM_020779.4(WDR35):c.1526G>T (p.Gly509Val)	WDR35 (G520V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1229845	NM_020779.4(WDR35):c.1524+168C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292279	NM_020779.4(WDR35):c.1524+91C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196967	NM_020779.4(WDR35):c.1471-66C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191256	NM_020779.4(WDR35):c.1471-173G>C	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202101	NM_020779.4(WDR35):c.1471-188A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 591777	NM_020779.4(WDR35):c.1408C>G (p.His470Asp)	WDR35 (H481D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200012	NM_020779.4(WDR35):c.1401-257C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223329	NM_020779.4(WDR35):c.1401-303A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280521	NM_020779.4(WDR35):c.1401-574C>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252154	NM_020779.4(WDR35):c.1401-590C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261051	NM_020779.4(WDR35):c.1401-600del	WDR35	Deletion (intron variant)	not provided	GBenign
Select item 1287825	NM_020779.4(WDR35):c.1401-626T>C	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242537	NM_020779.4(WDR35):c.1401-871G>A	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225752	NM_020779.4(WDR35):c.1400+34A>C	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 212588	NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln)	WDR35 (R470Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1802013	NM_020779.4(WDR35):c.1283C>G (p.Thr428Ser)	WDR35 (T428S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169554	NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)	WDR35 (A435T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1221450	NM_020779.4(WDR35):c.1256-54A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240809	NM_020779.4(WDR35):c.1256-301T>A	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201319	NM_020779.4(WDR35):c.1255+237A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281350	NM_020779.4(WDR35):c.1255+106C>T	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266518	NM_020779.4(WDR35):c.1255+65C>G	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 471482	NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)	WDR35 (I427M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1195800	NM_020779.4(WDR35):c.1195-96T>C	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258626	NM_020779.4(WDR35):c.1195-1477A>C	WDR35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215463	NM_020779.4(WDR35):c.1195-1507A>G	WDR35	Single nucleotide variant (intron variant)	not provided	GLikely benign

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