ClinVar for MedGen (Select 1631854) - ClinVar

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Items: 39

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21405241.	NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter) GRCh37: Chr2:55912087 GRCh38: Chr2:55684952	PNPT1	R132*	not provided, Combined oxidative phosphorylation defect type 13	Pathogenic/Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18056542.	NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys) GRCh37: Chr2:55910967 GRCh38: Chr2:55683832	PNPT1	R136C	Combined oxidative phosphorylation defect type 13	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 18056123.	NM_033109.5(PNPT1):c.1400C>A (p.Pro467His) GRCh37: Chr2:55883307 GRCh38: Chr2:55656172	PNPT1	P467H	Combined oxidative phosphorylation defect type 13	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 17006304.	NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter) GRCh37: Chr2:55874504-55874505 GRCh38: Chr2:55647369-55647370	PNPT1	Y527*	Combined oxidative phosphorylation defect type 13	Pathogenic (Aug 11, 2022)	no assertion criteria provided
Select item 16954295.	NM_033109.5(PNPT1):c.2014-3C>G GRCh37: Chr2:55870351 GRCh38: Chr2:55643216	PNPT1		Combined oxidative phosphorylation defect type 13	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 15414606.	NM_033109.5(PNPT1):c.1285-4del GRCh37: Chr2:55883510 GRCh38: Chr2:55656375	PNPT1		not provided, Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13390637.	NM_033109.5(PNPT1):c.496G>A (p.Asp166Asn) GRCh37: Chr2:55908011 GRCh38: Chr2:55680876	PNPT1	D166N	Combined oxidative phosphorylation defect type 13	Uncertain significance	criteria provided, single submitter
Select item 10341888.	NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala) GRCh37: Chr2:55913528 GRCh38: Chr2:55686393	PNPT1	P92A	Combined oxidative phosphorylation defect type 13	Uncertain significance (Sep 28, 2018)	criteria provided, single submitter
Select item 10341869.	NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val) GRCh37: Chr2:55870455 GRCh38: Chr2:55643320	PNPT1	D671V	Combined oxidative phosphorylation defect type 13	Uncertain significance (Jun 22, 2018)	criteria provided, single submitter
Select item 103103210.	NM_033109.5(PNPT1):c.1906+1G>A GRCh37: Chr2:55871771 GRCh38: Chr2:55644636	PNPT1		Combined oxidative phosphorylation defect type 13	Likely pathogenic (Sep 27, 2019)	criteria provided, single submitter
Select item 103103111.	NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) GRCh37: Chr2:55873456 GRCh38: Chr2:55646321	PNPT1	A559G	Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13, not provided	Uncertain significance (Aug 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103103012.	NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala) GRCh37: Chr2:55894181 GRCh38: Chr2:55667046	PNPT1	V374A	Inborn genetic diseases, Combined oxidative phosphorylation defect type 13, not provided	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99602813.	NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) GRCh37: Chr2:55863511 GRCh38: Chr2:55636376	PNPT1	R738H	not provided, Combined oxidative phosphorylation defect type 13	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 97289714.	NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) GRCh37: Chr2:55873605 GRCh38: Chr2:55646470	PNPT1	N540S	not provided, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70	Conflicting interpretations of pathogenicity (Sep 23, 2023)	criteria provided, conflicting interpretations
Select item 87116715.	NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser) GRCh37: Chr2:55883308 GRCh38: Chr2:55656173	PNPT1	P467S	not provided	Uncertain significance (Dec 1, 2019)	criteria provided, single submitter
Select item 86939616.	NM_033109.5(PNPT1):c.1818T>G (p.Val606=) GRCh37: Chr2:55872488 GRCh38: Chr2:55645353	PNPT1		Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, not provided	Pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80171417.	NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr) GRCh37: Chr2:55907886 GRCh38: Chr2:55680751	PNPT1	A176T	Combined oxidative phosphorylation defect type 13	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 73231418.	NM_033109.5(PNPT1):c.412A>G (p.Ile138Val) GRCh37: Chr2:55910961 GRCh38: Chr2:55683826	PNPT1	I138V	not provided, Combined oxidative phosphorylation defect type 13	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 67158819.	NM_033109.5(PNPT1):c.1247+29C>T GRCh37: Chr2:55889062 GRCh38: Chr2:55661927	PNPT1		not provided, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67158720.	NM_033109.5(PNPT1):c.867-47T>A GRCh37: Chr2:55899228 GRCh38: Chr2:55672093	PNPT1		not provided, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58737821.	NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg) GRCh37: Chr2:55882035 GRCh38: Chr2:55654900	PNPT1	G499R	Combined oxidative phosphorylation defect type 13	Pathogenic (Jan 23, 2019)	no assertion criteria provided
Select item 58737722.	NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr) GRCh37: Chr2:55867773 GRCh38: Chr2:55640638	PNPT1	D713Y	Combined oxidative phosphorylation defect type 13	Pathogenic (Jan 23, 2019)	no assertion criteria provided
Select item 58737623.	NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro) GRCh37: Chr2:55914794 GRCh38: Chr2:55687659	PNPT1	S70P	Combined oxidative phosphorylation defect type 13	Pathogenic (Jan 23, 2019)	no assertion criteria provided
Select item 58737524.	NM_033109.5(PNPT1):c.407G>A (p.Arg136His) GRCh37: Chr2:55910966 GRCh38: Chr2:55683831	PNPT1	R136H	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 54898725.	NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) GRCh37: Chr2:55883346 GRCh38: Chr2:55656211	PNPT1	A454G	Combined oxidative phosphorylation defect type 13, not provided	Conflicting interpretations of pathogenicity (Jun 17, 2022)	criteria provided, conflicting interpretations
Select item 25322526.	NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys) GRCh37: Chr2:55900134 GRCh38: Chr2:55672999	PNPT1	Q254K	Combined oxidative phosphorylation defect type 13	Pathogenic	criteria provided, single submitter
Select item 25322427.	NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro) GRCh37: Chr2:55874556 GRCh38: Chr2:55647421	PNPT1	A510P	not provided, Combined oxidative phosphorylation defect type 13	Pathogenic/Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21817528.	NM_033109.5(PNPT1):c.404-1G>A GRCh37: Chr2:55910970 GRCh38: Chr2:55683835	PNPT1		Combined oxidative phosphorylation defect type 13	Pathogenic (Nov 1, 2015)	no assertion criteria provided
Select item 21501029.	NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) GRCh37: Chr2:55874565 GRCh38: Chr2:55647430	PNPT1	A507S	Inborn genetic diseases, Neurodevelopmental disorder, Autosomal recessive nonsyndromic hearing loss 70, Spinocerebellar ataxia type 25, not provided, Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70	Conflicting interpretations of pathogenicity (Jul 31, 2023)	criteria provided, conflicting interpretations
Select item 21500930.	NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) GRCh37: Chr2:55882077 GRCh38: Chr2:55654942	PNPT1	M485V	not provided	Likely pathogenic (Jun 12, 2019)	criteria provided, single submitter
Select item 21500831.	NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) GRCh37: Chr2:55900206 GRCh38: Chr2:55673071	PNPT1	E230Q	Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13, not provided	Conflicting interpretations of pathogenicity (Aug 22, 2023)	criteria provided, conflicting interpretations
Select item 21500532.	NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) GRCh37: Chr2:55908014 GRCh38: Chr2:55680879	PNPT1	P165S	not provided, Combined oxidative phosphorylation defect type 13, Spinocerebellar ataxia type 25	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 21500333.	NM_033109.5(PNPT1):c.*11dup GRCh37: Chr2:55863360-55863361 GRCh38: Chr2:55636225-55636226	PNPT1		Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, not specified	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20918534.	NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) GRCh37: Chr2:55874559 GRCh38: Chr2:55647424	PNPT1	V509I	not provided, Inborn genetic diseases, Spinocerebellar ataxia type 25, not specified, Combined oxidative phosphorylation defect type 13	Conflicting interpretations of pathogenicity (Jul 24, 2023)	criteria provided, conflicting interpretations
Select item 20918435.	NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) GRCh37: Chr2:55874492 GRCh38: Chr2:55647357	PNPT1	T531R	Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 21, 2023)	criteria provided, conflicting interpretations
Select item 13874236.	NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) GRCh37: Chr2:55912120 GRCh38: Chr2:55684985	PNPT1	I121V	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13873737.	NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) GRCh37: Chr2:55883317 GRCh38: Chr2:55656182	PNPT1		not specified, Autosomal recessive nonsyndromic hearing loss 70, not provided, Combined oxidative phosphorylation defect type 13	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13873538.	NM_033109.5(PNPT1):c.1074-19A>G GRCh37: Chr2:55894247 GRCh38: Chr2:55667112	PNPT1		not specified, not provided, Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3980139.	NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg) GRCh37: Chr2:55894142 GRCh38: Chr2:55667007	PNPT1	Q387R	Combined oxidative phosphorylation defect type 13	Pathogenic (Nov 2, 2012)	no assertion criteria provided

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Items: 39