NME5[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064704	NM_003551.3(NME5):c.574del (p.Leu192fs)	NME5 (L192fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 48, without situs inversus	GUncertain significance
Select item 1705857	NM_003551.3(NME5):c.572G>A (p.Trp191Ter)	NME5 (W191*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 48, without situs inversus	GLikely pathogenic
Select item 3200805	NM_003551.3(NME5):c.571T>C (p.Trp191Arg)	NME5 (W191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705858	NM_003551.3(NME5):c.415del (p.Ile139fs)	NME5 (I139fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 48, without situs inversus	GPathogenic
Select item 2620162	NM_003551.3(NME5):c.401C>T (p.Ala134Val)	NME5 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348632	NM_003551.3(NME5):c.309A>C (p.Leu103Phe)	NME5 (L103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300151	NM_003551.3(NME5):c.293G>C (p.Gly98Ala)	NME5 (G98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362903	NM_003551.3(NME5):c.260A>G (p.His87Arg)	NME5 (H87R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3200803	NM_003551.3(NME5):c.148A>C (p.Ser50Arg)	NME5 (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376919	NM_003551.3(NME5):c.145C>T (p.Leu49Phe)	NME5 (L49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200802	NM_003551.3(NME5):c.142C>T (p.Arg48Cys)	NME5 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347941	NM_003551.3(NME5):c.103C>A (p.Leu35Ile)	NME5 (L35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance