ClinVar for PubMed (Select 20186691) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220907	NM_003119.4:c.[1049_1077del];[1045G>A]			Hereditary spastic paraplegia 7	GPathogenic
Select item 871225	NM_003119.4(SPG7):c.2216dup (p.Asn739fs)	SPG7 (N739fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 7 +1 more	GPathogenic
Select item 870319	NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]	CFTR, CFTR-AS1 (G576A +2 more)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 495141	NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	PACS2 (E209K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +5 more	GPathogenic/Likely pathogenic
Select item 424800	NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]			Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 53229	NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	CFTR, CFTR-AS1 (D443Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	Dysarthria +11 more	GPathogenic/Likely pathogenic
Select item 6820	NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)	SPG7 (W583C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6819	NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	SPG7 (G349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic