"Baylor Genetics"[submitter] AND "PNPT1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034187	NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg)	PNPT1 (K716R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582501	NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)	PNPT1 (M702I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 70	GUncertain significance
Select item 2582577	NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)	PNPT1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 70	GUncertain significance
Select item 1034186	NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val)	PNPT1 (D671V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GUncertain significance
Select item 805221	NM_033109.5(PNPT1):c.1925_1927del (p.Val642del)	PNPT1 (V642del)	Deletion (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 70 +1 more	GUncertain significance
Select item 1031032	NM_033109.5(PNPT1):c.1906+1G>A	PNPT1	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 13 +1 more	GLikely pathogenic
Select item 1031031	NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)	PNPT1 (A559G)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13 +2 more	GUncertain significance
Select item 209184	NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)	PNPT1 (T531R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 209185	NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)	PNPT1 (V509I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 215010	NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	PNPT1 (A507S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +5 more	GConflicting classifications of pathogenicity
Select item 2582557	NM_033109.5(PNPT1):c.1176+439G>A	PNPT1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 70	GUncertain significance
Select item 1031030	NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala)	PNPT1 (V374A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1034190	NM_033109.5(PNPT1):c.918del (p.Val307fs)	PNPT1 (V307fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 70	GPathogenic
Select item 215008	NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)	PNPT1 (E230Q)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13 +2 more	GConflicting classifications of pathogenicity
Select item 215005	NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)	PNPT1 (P165S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13 +3 more	GConflicting classifications of pathogenicity
Select item 732314	NM_033109.5(PNPT1):c.412A>G (p.Ile138Val)	PNPT1 (I138V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2582536	NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)	PNPT1 (S131R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 70	GUncertain significance
Select item 1034189	NM_033109.5(PNPT1):c.298-2A>T	PNPT1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 70	GPathogenic
Select item 1034188	NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala)	PNPT1 (P92A)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GUncertain significance