C0024507[trait identifier] AND "Dan Cohn Lab, University Of California - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288569	NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)	WDR35 (N395Y)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +4 more	GConflicting classifications of pathogenicity
Select item 431796	NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	WDR35 (G69D)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GPathogenic/Likely pathogenic
Select item 446697	NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)	IFT172, LOC126806174 (Y922*)	Duplication (nonsense)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GPathogenic/Likely pathogenic
Select item 446696	NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)	DYNC2LI1 (Q132K)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GConflicting classifications of pathogenicity
Select item 446649	NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)	TTC21B (Q834*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 446648	NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp)	TTC21B (A44D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446699	NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer)	TTC21B	Insertion (nonsense)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 446655	NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys)	TRAF3IP1 (E57K)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446656	NM_015650.4(TRAF3IP1):c.988-1G>C	TRAF3IP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 406218	NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)	IFT80, TRIM59-IFT80 (G241R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 446664	NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	EVC2 (Q570* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic
Select item 3383	NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	EVC2, LOC126806961 (R399* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 446662	NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	EVC (Y121*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446661	NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)	EVC (K302del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome +2 more	GLikely pathogenic
Select item 5340	NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	EVC (R340*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 5338	NM_153717.3(EVC):c.1886+5G>T	EVC	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 208600	NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)	NEK1 (S1036* +6 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GPathogenic/Likely pathogenic
Select item 446669	NM_001199397.3(NEK1):c.2886-1G>A	NEK1	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446673	NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs)	NEK1 (N894fs +6 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 446686	NM_001199397.3(NEK1):c.1992del (p.Val665fs)	NEK1 (V593fs +5 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 446671	NM_001199397.3(NEK1):c.1868del (p.Ser623fs)	NEK1 (S595fs +6 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446670	NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs)	NEK1 (R562fs +6 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446667	NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)	NEK1 (R540* +4 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GPathogenic/Likely pathogenic
Select item 446672	NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)	NEK1 (W409* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GPathogenic/Likely pathogenic
Select item 446668	NM_001199397.3(NEK1):c.599_602del (p.Lys200fs)	NEK1 (K200fs)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 446674	NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)	NEK1 (G140R)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GLikely pathogenic
Select item 266055	NM_001199397.3(NEK1):c.214+1G>A	NEK1	Single nucleotide variant (splice donor variant)	Connective tissue disorder +2 more	GPathogenic; other
Select item 446698	NM_025103.4(IFT74):c.120+2dup	IFT74	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 446536	NM_001377.3(DYNC2H1):c.10042+2T>G	DYNC2H1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 369661	NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	DYNC2H1 (L3448P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 446681	NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu)	DYNC2H1 (G4306E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 446675	NM_025129.5(FUZ):c.98_111+9del	FUZ	Deletion (intron variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic

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Items: 32