NPNT[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 3201736	NM_001033047.3(NPNT):c.7T>G (p.Phe3Val)	LOC129992920, NPNT (F3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346442	NM_001033047.3(NPNT):c.28G>A (p.Val10Ile)	LOC129992920, NPNT (V10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588032	NM_001033047.3(NPNT):c.59A>C (p.Glu20Ala)	LOC129992920, NPNT (E20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392633	NM_001033047.3(NPNT):c.59A>G (p.Glu20Gly)	LOC129992920, NPNT (E20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201732	NM_001033047.3(NPNT):c.65A>T (p.Asp22Val)	LOC129992920, NPNT (D22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655004	NM_001033047.3(NPNT):c.103C>T (p.Leu35=)	NPNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539398	NM_001033047.3(NPNT):c.109C>T (p.Arg37Cys)	NPNT (R37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594483	NM_001033047.3(NPNT):c.110G>A (p.Arg37His)	NPNT (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379692	NM_001033047.3(NPNT):c.125T>C (p.Ile42Thr)	NPNT (I42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260311	NM_001033047.3(NPNT):c.149G>A (p.Arg50His)	NPNT (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201729	NM_001033047.3(NPNT):c.254C>T (p.Thr85Ile)	NPNT (T102I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655005	NM_001033047.3(NPNT):c.270A>C (p.Leu90=)	NPNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287449	NM_001033047.3(NPNT):c.403A>G (p.Met135Val)	NPNT (M152V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655006	NM_001033047.3(NPNT):c.467C>T (p.Pro156Leu)	NPNT (P156L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3201730	NM_001033047.3(NPNT):c.469G>A (p.Gly157Ser)	NPNT (G174S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201731	NM_001033047.3(NPNT):c.520G>A (p.Ala174Thr)	NPNT (A204T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352346	NM_001033047.3(NPNT):c.590G>A (p.Cys197Tyr)	NPNT (C197Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265872	NM_001033047.3(NPNT):c.604G>A (p.Asp202Asn)	NPNT (D219N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477131	NM_001033047.3(NPNT):c.612G>A (p.Met204Ile)	NPNT (M204I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201734	NM_001033047.3(NPNT):c.689G>A (p.Arg230Gln)	NPNT (R260Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201735	NM_001033047.3(NPNT):c.698A>G (p.Asn233Ser)	NPNT (N233S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065065	NM_001033047.3(NPNT):c.714C>G (p.Tyr238Ter)	NPNT (Y238* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2530285	NM_001033047.3(NPNT):c.844G>A (p.Gly282Arg)	NPNT (G312R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606245	NM_001033047.3(NPNT):c.875G>A (p.Ser292Asn)	NPNT (S322N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541736	NM_001033047.3(NPNT):c.904A>G (p.Ile302Val)	NPNT (I302V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385220	NM_001033047.3(NPNT):c.964C>G (p.Pro322Ala)	NPNT (P352A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404990	NM_001033047.3(NPNT):c.1037C>T (p.Thr346Ile)	NPNT (T363I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563079	NM_001033047.3(NPNT):c.1057G>A (p.Gly353Arg)	NPNT (G353R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264884	NM_001033047.3(NPNT):c.1088C>T (p.Thr363Ile)	NPNT (T380I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655007	NM_001033047.3(NPNT):c.1142C>T (p.Pro381Leu)	NPNT (P381L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2458620	NM_001033047.3(NPNT):c.1274A>G (p.Asp425Gly)	NPNT (D455G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476845	NM_001033047.3(NPNT):c.1282C>G (p.Leu428Val)	NPNT (L428V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201726	NM_001033047.3(NPNT):c.1330A>G (p.Ile444Val)	NPNT (I415V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268861	NM_001033047.3(NPNT):c.1354T>C (p.Tyr452His)	NPNT (Y452H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305633	NM_001033047.3(NPNT):c.1360A>T (p.Thr454Ser)	NPNT (T471S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392349	NM_001033047.3(NPNT):c.1421G>A (p.Arg474His)	NPNT (R445H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226771	NM_001033047.3(NPNT):c.1430A>G (p.His477Arg)	NPNT (H507R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353272	NM_001033047.3(NPNT):c.1513G>A (p.Gly505Ser)	NPNT (G506S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201728	NM_001033047.3(NPNT):c.1522G>A (p.Gly508Arg)	NPNT (G525R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544612	NM_001033047.3(NPNT):c.1544A>T (p.Asn515Ile)	NPNT (N515I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211604	NM_001033047.3(NPNT):c.1547G>T (p.Gly516Val)	NPNT (G546V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240378	NM_001033047.3(NPNT):c.1583G>C (p.Arg528Pro)	NPNT (R499P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211605	NM_001033047.3(NPNT):c.1583G>A (p.Arg528Gln)	NPNT (R528Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215436	NM_001033047.3(NPNT):c.1624A>G (p.Arg542Gly)	NPNT (R542G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456800	NM_001033047.3(NPNT):c.1627C>T (p.Arg543Cys)	NPNT (R560C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	SLC39A8, TBCK +19 more	Duplication	not provided	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 562953	GRCh37/hg19 4q24-25(chr4:106582279-108557118)x1	NPNT, DKK2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 562952	GRCh37/hg19 4q24(chr4:106507186-106882078)x3	NPNT, INTS12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 61