ClinVar for Gene (Select 255743) - ClinVar

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

Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300835	NM_001033047.3(NPNT):c.542C>T (p.Pro181Leu)	NPNT (P181L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300834	NM_001033047.3(NPNT):c.1581G>T (p.Leu527Phe)	NPNT (L544F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300833	NM_001033047.3(NPNT):c.1461C>G (p.His487Gln)	NPNT (H487Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300832	NM_001033047.3(NPNT):c.1087A>G (p.Thr363Ala)	NPNT (T380A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300831	NM_001033047.3(NPNT):c.1420C>T (p.Arg474Cys)	NPNT (R491C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300830	NM_001033047.3(NPNT):c.1335G>T (p.Arg445Ser)	NPNT (R462S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300829	NM_001033047.3(NPNT):c.73T>G (p.Trp25Gly)	NPNT (W25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300828	NM_001033047.3(NPNT):c.422G>T (p.Gly141Val)	NPNT (G158V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300827	NM_001033047.3(NPNT):c.1459C>A (p.His487Asn)	NPNT (H504N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300825	NM_001033047.3(NPNT):c.1682G>A (p.Cys561Tyr)	NPNT (C562Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300824	NM_001033047.3(NPNT):c.721A>G (p.Lys241Glu)	NPNT (K241E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3201732	NM_001033047.3(NPNT):c.65A>T (p.Asp22Val)	LOC129992920, NPNT (D22V)	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 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 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 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 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 3065065	NM_001033047.3(NPNT):c.714C>G (p.Tyr238Ter)	NPNT (Y238* +2 more)	Single nucleotide variant (nonsense)	not provided	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	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
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 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 2655005	NM_001033047.3(NPNT):c.270A>C (p.Leu90=)	NPNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655004	NM_001033047.3(NPNT):c.103C>T (p.Leu35=)	NPNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2594483	NM_001033047.3(NPNT):c.110G>A (p.Arg37His)	NPNT (R37H)	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 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 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 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 2539398	NM_001033047.3(NPNT):c.109C>T (p.Arg37Cys)	NPNT (R37C)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	AIMP1, ARHGEF38 +19 more	Duplication	not provided	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 2392633	NM_001033047.3(NPNT):c.59A>G (p.Glu20Gly)	LOC129992920, NPNT (E20G)	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 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 2379692	NM_001033047.3(NPNT):c.125T>C (p.Ile42Thr)	NPNT (I42T)	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 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 2346442	NM_001033047.3(NPNT):c.28G>A (p.Val10Ile)	LOC129992920, NPNT (V10I)	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 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 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 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 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 2260311	NM_001033047.3(NPNT):c.149G>A (p.Arg50His)	NPNT (R50H)	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 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 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 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 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 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)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 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 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	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 Gene

Items: 72