Related gene-specific medical variations for Gene (Select 87178) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247575	NC_000002.11:g.(?_55870273)_(55883526_?)del	PNPT1	Deletion	not provided	GPathogenic
Select item 3216132	NM_033109.5(PNPT1):c.94C>G (p.Gln32Glu)	LOC129933770, PNPT1 (Q32E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3061186	NM_033109.5(PNPT1):c.46del (p.Pro15_Leu16insTer)	LOC129933770, PNPT1	Deletion (nonsense)	PNPT1-related disorder	GUncertain significance
Select item 3047217	NM_033109.5(PNPT1):c.15G>A (p.Arg5=)	LOC129933771, PNPT1	Single nucleotide variant (synonymous variant)	PNPT1-related disorder	GLikely benign
Select item 2784305	NM_033109.5(PNPT1):c.9C>T (p.Ala3=)	LOC129933771, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689803	NM_033109.5(PNPT1):c.1252A>T (p.Ile418Leu)	PNPT1 (I418L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650953	NM_033109.5(PNPT1):c.5C>T (p.Ala2Val)	LOC129933771, PNPT1 (A2V)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 2490409	NM_033109.5(PNPT1):c.11G>T (p.Cys4Phe)	LOC129933771, PNPT1 (C4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193372	NM_033109.5(PNPT1):c.63C>T (p.Phe21=)	LOC129933770, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190307	NM_033109.5(PNPT1):c.24C>T (p.Cys8=)	LOC129933771, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140138	NM_033109.5(PNPT1):c.159C>G (p.Asn53Lys)	LOC129933770, PNPT1 (N53K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097344	NM_033109.5(PNPT1):c.79G>A (p.Asp27Asn)	LOC129933770, PNPT1 (D27N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089867	NM_033109.5(PNPT1):c.139G>T (p.Val47Leu)	LOC129933770, PNPT1 (V47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089634	NM_033109.5(PNPT1):c.87A>G (p.Ala29=)	LOC129933770, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083127	NM_033109.5(PNPT1):c.125C>T (p.Ala42Val)	LOC129933770, PNPT1 (A42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060498	NM_033109.5(PNPT1):c.93C>T (p.Thr31=)	LOC129933770, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016581	NM_033109.5(PNPT1):c.69G>C (p.Leu23=)	LOC129933770, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000229	NM_033109.5(PNPT1):c.19T>G (p.Cys7Gly)	LOC129933771, PNPT1 (C7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801416	NM_033109.5(PNPT1):c.1496-3539_1496-3401del	PNPT1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1716202	NM_033109.5(PNPT1):c.92C>G (p.Thr31Ser)	LOC129933770, PNPT1 (T31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700956	NM_033109.5(PNPT1):c.134G>C (p.Arg45Pro)	LOC129933770, PNPT1 (R45P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652414	NM_033109.5(PNPT1):c.132T>G (p.Ser44=)	PNPT1, LOC129933770	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651841	NM_033109.5(PNPT1):c.147G>T (p.Val49=)	LOC129933770, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562893	NM_033109.5(PNPT1):c.13A>C (p.Arg5=)	LOC129933771, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497689	NM_033109.5(PNPT1):c.16T>A (p.Tyr6Asn)	LOC129933771, PNPT1 (Y6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491268	NM_033109.5(PNPT1):c.10T>G (p.Cys4Gly)	LOC129933771, PNPT1 (C4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438909	NM_033109.5(PNPT1):c.67C>A (p.Leu23Met)	LOC129933770, PNPT1 (L23M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434562	NM_033109.5(PNPT1):c.29G>A (p.Cys10Tyr)	LOC129933771, PNPT1 (C10Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409321	NM_033109.5(PNPT1):c.26C>G (p.Ser9Trp)	LOC129933771, PNPT1 (S9W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407217	NM_033109.5(PNPT1):c.85G>A (p.Ala29Thr)	LOC129933770, PNPT1 (A29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391287	NM_033109.5(PNPT1):c.65T>A (p.Leu22His)	LOC129933770, PNPT1 (L22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380551	NM_033109.5(PNPT1):c.103G>A (p.Val35Met)	LOC129933770, PNPT1 (V35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375782	NM_033109.5(PNPT1):c.41_46dup (p.Arg14_Pro15dup)	LOC129933770, PNPT1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 972896	NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly)	LOC129933770, PNPT1 (A46G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 756239	NM_033109.5(PNPT1):c.21C>T (p.Cys7=)	LOC129933771, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745753	NM_033109.5(PNPT1):c.97T>C (p.Leu33=)	LOC129933770, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742395	NM_033109.5(PNPT1):c.129G>A (p.Gly43=)	LOC129933770, PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687678	GRCh37/hg19 2p16.1(chr2:55847734-55969529)x3	PNPT1	Copy number gain	not provided	GUncertain significance
Select item 635926	NM_033109.5:c.652A>T	PNPT1, SATB2	Single nucleotide variant	Neurodevelopmental disorder	GPathogenic
Select item 253822	GRCh37/hg19 2p16.1(chr2:55910769-55921261)x3	PNPT1	Copy number gain	See cases	GUncertain significance
Select item 253770	GRCh37/hg19 2p16.1(chr2:55910804-55921261)x3	PNPT1	Copy number gain	See cases	GUncertain significance
Select item 215004	NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr)	LOC129933770, PNPT1 (S41T)	Single nucleotide variant (missense variant)	PNPT1-related disorder +3 more	GBenign/Likely benign

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Links from Gene

Items: 48