C0024507[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 283728	NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +3 more	GBenign/Likely benign
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 1474082	NM_001199397.3(NEK1):c.2588-2A>G	NEK1	Single nucleotide variant (intron variant +1 more)	Amyotrophic lateral sclerosis, susceptibility to, 24 +1 more	GLikely pathogenic
Select item 282693	NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 578956	NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly)	NEK1 (A614G +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance