"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "WDR35"[ - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 370

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288788	NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)	WDR35 (I1167R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 898012	NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu)	WDR35 (Q1165E +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2191713	NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)	WDR35 (L1163R +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2045868	NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)	WDR35 (L1152F +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2160911	NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)	WDR35 (G1161S +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GUncertain significance
Select item 2068487	NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)	WDR35 (C1158R +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2933666	NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)	WDR35 (M1143L +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 558762	NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)	WDR35 (E1149K +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GUncertain significance
Select item 568490	NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu)	WDR35 (G1144E +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2177240	NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1427509	NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg)	WDR35 (C1140R +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1648549	NM_020779.4(WDR35):c.3363-9G>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2923325	NM_020779.4(WDR35):c.3363-10C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1655421	NM_020779.4(WDR35):c.3363-11C>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 1671784	NM_020779.4(WDR35):c.3363-15C>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2108611	NM_020779.4(WDR35):c.3362+6C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 1397015	NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly)	WDR35 (S1117G +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 570668	NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GPathogenic
Select item 1423117	NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys)	WDR35 (E1114K +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 440416	NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)	WDR35 (K1123R +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
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 1469107	NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser)	WDR35 (T1103S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2932047	NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)	WDR35 (Y1094F +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 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 2179976	NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1016710	NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn)	WDR35 (T1085N +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 287740	NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 2949400	NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 1149107	NM_020779.4(WDR35):c.3207C>T (p.Ala1069=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 736106	NM_020779.4(WDR35):c.3195C>T (p.Cys1065=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 333370	NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)	WDR35 (C1076S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GUncertain significance
Select item 1402248	NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr)	WDR35 (A1064T +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1591702	NM_020779.4(WDR35):c.3189C>T (p.Cys1063=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1385480	NM_020779.4(WDR35):c.3162G>A (p.Val1054=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 899130	NM_020779.4(WDR35):c.3136G>C (p.Asp1046His)	WDR35 (D1057H +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 668321	NM_020779.4(WDR35):c.3122-3T>C	WDR35	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1955263	NM_020779.4(WDR35):c.3122-16G>C	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
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 1993273	NM_020779.4(WDR35):c.3121+10T>C	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 283797	NM_020779.4(WDR35):c.3121+3G>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GLikely benign
Select item 2097847	NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)	WDR35 (K1050N +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1715591	NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)	WDR35 (A1012P +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1358516	NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile)	WDR35 (T1009I +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	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 2149564	NM_020779.4(WDR35):c.3003T>A (p.Val1001=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 1385640	NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del)	WDR35 (E1000del +1 more)	Microsatellite (inframe_deletion)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 895009	NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val)	WDR35 (E1000V +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GUncertain significance
Select item 1089851	NM_020779.4(WDR35):c.2994A>G (p.Glu998=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2925343	NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)	WDR35 (A1005S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 839633	NM_020779.4(WDR35):c.2976del (p.Leu993fs)	WDR35 (L993fs +1 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 2 +1 more	GPathogenic/Likely pathogenic
Select item 968745	NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala)	WDR35 (T1001A +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333374	NM_020779.4(WDR35):c.2965-4G>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 2929960	NM_020779.4(WDR35):c.2965-5C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2944219	NM_020779.4(WDR35):c.2965-20T>C	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2051602	NM_020779.4(WDR35):c.2964+17_2964+18delinsGG	WDR35	Indel (intron variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2177128	NM_020779.4(WDR35):c.2964+14T>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 1656835	NM_020779.4(WDR35):c.2964+13G>A	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 896446	NM_020779.4(WDR35):c.2964+12C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GBenign/Likely benign
Select item 437274	NM_020779.4(WDR35):c.2964+10C>A	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +3 more	GConflicting classifications of pathogenicity
Select item 1489873	NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu)	WDR35 (S998L +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
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 1385796	NM_020779.4(WDR35):c.2930C>T (p.Ala977Val)	WDR35 (A977V +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 167844	NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)	WDR35 (E983G +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GBenign
Select item 742383	NM_020779.4(WDR35):c.2913T>C (p.His971=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1417308	NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr)	WDR35 (I967T +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1481591	NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly)	WDR35 (A975G +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 729553	NM_020779.4(WDR35):c.2877C>G (p.Leu959=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1426833	NM_020779.4(WDR35):c.2864G>A (p.Arg955His)	WDR35 (R966H +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1483423	NM_020779.4(WDR35):c.2856A>G (p.Lys952=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 723521	NM_020779.4(WDR35):c.2847A>G (p.Lys949=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2096776	NM_020779.4(WDR35):c.2844G>A (p.Lys948=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2929065	NM_020779.4(WDR35):c.2838G>A (p.Glu946=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 772294	NM_020779.4(WDR35):c.2835A>G (p.Glu945=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 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 2942726	NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA	WDR35	Indel (intron variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 1394461	NM_020779.4(WDR35):c.2823G>A (p.Lys941=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 1015571	NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn)	WDR35 (D934N +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 1524350	NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser)	WDR35 (F933S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1471421	NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln)	WDR35 (R938Q +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 1431548	NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp)	WDR35 (R927W +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
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 1578384	NM_020779.4(WDR35):c.2760T>A (p.Leu920=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1409061	NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu)	WDR35 (K927E +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1607415	NM_020779.4(WDR35):c.2739A>G (p.Leu913=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1380976	NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys)	WDR35 (Y909C +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 1978470	NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)	WDR35 (E901* +1 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 2 +1 more	GPathogenic
Select item 1591090	NM_020779.4(WDR35):c.2691T>C (p.His897=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 846226	NM_020779.4(WDR35):c.2681C>T (p.Ala894Val)	WDR35 (A905V +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333377	NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)	WDR35 (L904S +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +3 more	GConflicting classifications of pathogenicity
Select item 658342	NM_020779.4(WDR35):c.2672T>C (p.Val891Ala)	WDR35 (V902A +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2937278	NM_020779.4(WDR35):c.2659-13A>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1547188	NM_020779.4(WDR35):c.2659-19G>A	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2941707	NM_020779.4(WDR35):c.2658+14C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2921988	NM_020779.4(WDR35):c.2646A>G (p.Val882=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1406182	NM_020779.4(WDR35):c.2644G>A (p.Val882Ile)	WDR35 (V882I +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1580727	NM_020779.4(WDR35):c.2643C>T (p.Cys881=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 1072199	NM_020779.4(WDR35):c.2638dup (p.Thr880fs)	WDR35 (T880fs +1 more)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GPathogenic
Select item 1485583	NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly)	WDR35 (A876G +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2952149	NM_020779.4(WDR35):c.2622A>T (p.Pro874=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GBenign

<< First< Prev

Page of 4