ClinVar for MedGen (Select 96578) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446685	NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)	EVC2 (Q1041* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
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 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 446652	NM_020800.3(IFT80):c.487_490del (p.Leu163fs)	TRIM59-IFT80, IFT80 (L163fs +1 more)	Deletion (non-coding transcript variant +1 more)	Type IV short rib polydactyly syndrome	GPathogenic/Likely pathogenic
Select item 446651	NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)	TTC21B (L1202P)	Single nucleotide variant (missense variant)	Type IV short rib polydactyly syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446650	NM_024753.5(TTC21B):c.1320del (p.Phe440fs)	TTC21B (F440fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 4 +4 more	GPathogenic/Likely pathogenic
Select item 446637	NM_025132.4(WDR19):c.475G>A (p.Asp159Asn)	WDR19 (D159N)	Single nucleotide variant (5 prime UTR variant +1 more)	Type IV short rib polydactyly syndrome	GPathogenic/Likely pathogenic
Select item 446636	NM_025132.4(WDR19):c.3484-2A>C	WDR19	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely pathogenic
Select item 406217	NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)	IFT80, TRIM59-IFT80 (T365A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 281122	NM_147127.5(EVC2):c.1823G>A (p.Arg608His)	EVC2 (R608H +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 216490	NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)	DYNC2H1 (Y2016C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity