ClinVar for MedGen (Select 1631854) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068270	NM_033109.5(PNPT1):c.1284+4A>C	PNPT1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 13	GLikely pathogenic
Select item 3065131	NM_033109.5(PNPT1):c.1823-6T>A	PNPT1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 13	GUncertain significance
Select item 2687785	NM_033109.5(PNPT1):c.1528G>A (p.Ala510Thr)	PNPT1 (A510T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GUncertain significance
Select item 2140524	NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter)	PNPT1 (R132*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 13 +1 more	GPathogenic/Likely pathogenic
Select item 1805654	NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)	PNPT1 (R136C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GPathogenic
Select item 1805612	NM_033109.5(PNPT1):c.1400C>A (p.Pro467His)	PNPT1 (P467H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GLikely pathogenic
Select item 1700630	NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter)	PNPT1 (Y527*)	Insertion (nonsense)	Combined oxidative phosphorylation defect type 13	GPathogenic
Select item 1695429	NM_033109.5(PNPT1):c.2014-3C>G	PNPT1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 13	GLikely pathogenic
Select item 1541460	NM_033109.5(PNPT1):c.1285-4del	PNPT1	Deletion (intron variant)	Combined oxidative phosphorylation defect type 13 +2 more	GBenign/Likely benign
Select item 1339063	NM_033109.5(PNPT1):c.496G>A (p.Asp166Asn)	PNPT1 (D166N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GUncertain significance
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
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 1031032	NM_033109.5(PNPT1):c.1906+1G>A	PNPT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1031031	NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)	PNPT1 (A559G)	Single nucleotide variant (missense variant)	not provided +2 more	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 996028	NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)	PNPT1 (R738H)	Single nucleotide variant (missense variant)	PNPT1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 972897	NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)	PNPT1 (N540S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 871167	NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser)	PNPT1 (P467S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 869396	NM_033109.5(PNPT1):c.1818T>G (p.Val606=)	PNPT1	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 13 +2 more	GPathogenic
Select item 801714	NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr)	PNPT1 (A176T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GLikely pathogenic
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 671588	NM_033109.5(PNPT1):c.1247+29C>T	PNPT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 671587	NM_033109.5(PNPT1):c.867-47T>A	PNPT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 587378	NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg)	PNPT1 (G499R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GPathogenic
Select item 587377	NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr)	PNPT1 (D713Y)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GPathogenic
Select item 587376	NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro)	PNPT1 (S70P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GPathogenic
Select item 587375	NM_033109.5(PNPT1):c.407G>A (p.Arg136His)	PNPT1 (R136H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 548987	NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly)	PNPT1 (A454G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 427125	NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr)	PNPT1 (A173T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13 +1 more	GConflicting classifications of pathogenicity
Select item 253225	NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys)	PNPT1 (Q254K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GPathogenic
Select item 253224	NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro)	PNPT1 (A510P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13 +1 more	GPathogenic/Likely pathogenic
Select item 218175	NM_033109.5(PNPT1):c.404-1G>A	PNPT1	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 13	GPathogenic
Select item 215010	NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	PNPT1 (A507S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 215009	NM_033109.5(PNPT1):c.1453A>G (p.Met485Val)	PNPT1 (M485V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 +3 more	GConflicting classifications of pathogenicity
Select item 215005	NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)	PNPT1 (P165S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 25 +2 more	GConflicting classifications of pathogenicity
Select item 215003	NM_033109.5(PNPT1):c.*11dup	PNPT1	Duplication (3 prime UTR variant)	Combined oxidative phosphorylation defect type 13 +2 more	GBenign
Select item 209185	NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)	PNPT1 (V509I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 25 +3 more	GConflicting classifications of pathogenicity
Select item 209184	NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)	PNPT1 (T531R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 138742	NM_033109.5(PNPT1):c.361A>G (p.Ile121Val)	PNPT1 (I121V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 138737	NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)	PNPT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 138735	NM_033109.5(PNPT1):c.1074-19A>G	PNPT1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 39801	NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg)	PNPT1 (Q387R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 43