"PreventionGenetics, part of Exact Sciences"[submitter] AND "WDR35"[ge - ClinVar

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Items: 47

	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 +3 more	GConflicting classifications of pathogenicity
Select item 2177240	NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GLikely benign
Select item 2923325	NM_020779.4(WDR35):c.3363-10C>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GLikely benign
Select item 440416	NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)	WDR35 (K1123R +1 more)	Single nucleotide variant (missense variant)	WDR35-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 333369	NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)	WDR35 (Q1104H +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 287740	NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 736106	NM_020779.4(WDR35):c.3195C>T (p.Cys1065=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GLikely benign
Select item 1591702	NM_020779.4(WDR35):c.3189C>T (p.Cys1063=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder +2 more	GLikely benign
Select item 668321	NM_020779.4(WDR35):c.3122-3T>C	WDR35	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2636456	NM_020779.4(WDR35):c.3046G>C (p.Ala1016Pro)	WDR35 (A1016P +1 more)	Single nucleotide variant (missense variant)	WDR35-related disorder	GUncertain significance
Select item 167844	NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)	WDR35 (E983G +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 729553	NM_020779.4(WDR35):c.2877C>G (p.Leu959=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GLikely benign
Select item 167846	NM_020779.4(WDR35):c.2824-14G>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 195803	NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)	WDR35 (Y937C +1 more)	Single nucleotide variant (missense variant)	WDR35-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1591090	NM_020779.4(WDR35):c.2691T>C (p.His897=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder +2 more	GLikely benign
Select item 333377	NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)	WDR35 (L904S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 1652518	NM_020779.4(WDR35):c.2622A>C (p.Pro874=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder +2 more	GLikely benign
Select item 774100	NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)	LOC129933186, WDR35 (V869A +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +4 more	GConflicting classifications of pathogenicity
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 +2 more	GBenign
Select item 3053531	NM_020779.4(WDR35):c.2394C>T (p.Tyr798=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder	GLikely benign
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 +3 more	GBenign/Likely benign
Select item 195468	NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)	WDR35 (I728V +1 more)	Single nucleotide variant (missense variant)	WDR35-related disorder +4 more	GBenign/Likely benign
Select item 287739	NM_020779.4(WDR35):c.2109T>G (p.Thr703=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +3 more	GConflicting classifications of pathogenicity
Select item 212590	NM_020779.4(WDR35):c.2066G>A (p.Arg689His)	WDR35 (R700H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 471483	NM_020779.4(WDR35):c.1755C>T (p.Val585=)	WDR35	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2633789	NM_020779.4(WDR35):c.1711C>T (p.Gln571Ter)	WDR35 (Q571* +1 more)	Single nucleotide variant (nonsense)	WDR35-related disorder	GLikely pathogenic
Select item 440417	NM_020779.4(WDR35):c.1471-7A>G	WDR35	Single nucleotide variant (intron variant)	WDR35-related disorder +3 more	GBenign/Likely benign
Select item 898197	NM_020779.4(WDR35):c.1260A>G (p.Pro420=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 471482	NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)	WDR35 (I427M +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +4 more	GConflicting classifications of pathogenicity
Select item 283601	NM_020779.4(WDR35):c.1227A>G (p.Thr409=)	WDR35	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 497213	NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)	WDR35 (V358I)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +3 more	GConflicting classifications of pathogenicity
Select item 333398	NM_020779.4(WDR35):c.1053T>C (p.Pro351=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 497211	NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)	WDR35 (P351A)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 333401	NM_020779.4(WDR35):c.798C>T (p.Ser266=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 3032181	NM_020779.4(WDR35):c.741C>T (p.Pro247=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder	GLikely benign
Select item 3046403	NM_020779.4(WDR35):c.737-4C>T	WDR35	Single nucleotide variant (intron variant)	WDR35-related disorder	GLikely benign
Select item 771068	NM_020779.4(WDR35):c.681T>C (p.Leu227=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GLikely benign
Select item 2631751	NM_020779.4(WDR35):c.524del (p.Met175fs)	WDR35 (M175fs)	Deletion (frameshift variant)	WDR35-related disorder	GLikely pathogenic
Select item 3031086	NM_020779.4(WDR35):c.399A>G (p.Val133=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder	GLikely benign
Select item 281109	NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)	WDR35 (R119C)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +4 more	GConflicting classifications of pathogenicity
Select item 499132	NM_020779.4(WDR35):c.318T>C (p.Ile106=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +4 more	GBenign/Likely benign
Select item 895270	NM_020779.4(WDR35):c.273A>G (p.Glu91=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 3038136	NM_020779.4(WDR35):c.198T>G (p.Thr66=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder	GLikely benign
Select item 772178	NM_020779.4(WDR35):c.142+10T>C	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GBenign/Likely benign
Select item 1506352	NM_020779.4(WDR35):c.142+5A>G	WDR35	Single nucleotide variant (intron variant)	WDR35-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 256876	NM_020779.4(WDR35):c.25-46G>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +3 more	GBenign
Select item 258647	NM_002381.5(MATN3):c.1406-4C>T	MATN3, WDR35 +1 more	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign

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Items: 47