NINL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 155473	GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3	LOC130065583, LOC130065584 +45 more	Copy number gain	See cases	GUncertain significance
Select item 58970	GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3	ABHD12, ENTPD6 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58971	GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3	ABHD12, ENTPD6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2499655	GRCh38/hg38 20p11.21(chr20:25121080-25485829)	ABHD12, ENTPD6 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 3044695	NM_025176.6(NINL):c.4142_4143del (p.Ser1381fs)	NINL (S1032fs +1 more)	Microsatellite (frameshift variant)	NINL-related disorder	GLikely benign
Select item 2399860	NM_025176.6(NINL):c.4135G>A (p.Ala1379Thr)	NINL (A1030T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333117	NM_025176.6(NINL):c.4126G>T (p.Ala1376Ser)	NINL (A1027S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277392	NM_025176.6(NINL):c.4090A>G (p.Lys1364Glu)	NINL (K1015E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200131	NM_025176.6(NINL):c.4001A>G (p.Tyr1334Cys)	NINL (Y1334C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333411	NM_025176.6(NINL):c.3982C>A (p.Leu1328Met)	NINL (L1328M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145095	GRCh38/hg38 20p11.21(chr20:25454622-25581787)x3	LOC121627901, LOC125387247 +2 more	Copy number gain	See cases	GBenign
Select item 2496346	NM_025176.6(NINL):c.3955C>A (p.Gln1319Lys)	NINL (Q970K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200130	NM_025176.6(NINL):c.3787C>T (p.His1263Tyr)	NINL (H1263Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537018	NM_025176.6(NINL):c.3755G>A (p.Arg1252Gln)	NINL (R903Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461902	NM_025176.6(NINL):c.3754C>T (p.Arg1252Trp)	NINL (R903W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204947	NM_025176.6(NINL):c.3745C>G (p.Gln1249Glu)	NINL (Q900E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035719	NM_025176.6(NINL):c.3737A>G (p.Gln1246Arg)	NINL (Q1246R +1 more)	Single nucleotide variant (missense variant)	NINL-related disorder	GLikely benign
Select item 3034254	NM_025176.6(NINL):c.3664C>G (p.Leu1222Val)	NINL (L1222V +1 more)	Single nucleotide variant (missense variant)	NINL-related disorder	GLikely benign
Select item 3200129	NM_025176.6(NINL):c.3656G>T (p.Trp1219Leu)	NINL (W870L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242523	NM_025176.6(NINL):c.3553G>A (p.Glu1185Lys)	NINL (E1185K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200128	NM_025176.6(NINL):c.3520C>T (p.Arg1174Cys)	NINL (R1174C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635224	NM_025176.6(NINL):c.3429G>C (p.Gln1143His)	NINL (Q1143H +1 more)	Single nucleotide variant (missense variant)	NINL-related disorder	GUncertain significance
Select item 3061042	NM_025176.6(NINL):c.3423+4A>T	NINL	Single nucleotide variant (intron variant)	NINL-related disorder	GUncertain significance
Select item 3200127	NM_025176.6(NINL):c.3311G>A (p.Arg1104Gln)	NINL (R1104Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378935	NM_025176.6(NINL):c.3302G>A (p.Gly1101Glu)	NINL (G752E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295696	NM_025176.6(NINL):c.3287T>G (p.Leu1096Trp)	NINL (L1096W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259747	NM_025176.6(NINL):c.3284T>C (p.Leu1095Ser)	NINL (L746S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390930	NM_025176.6(NINL):c.3269C>G (p.Ser1090Cys)	NINL (S1090C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614412	NM_025176.6(NINL):c.3237A>C (p.Arg1079Ser)	NINL (R1079S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044293	NM_025176.6(NINL):c.3209G>A (p.Arg1070Gln)	NINL (R1070Q)	Single nucleotide variant (missense variant +1 more)	NINL-related disorder	GLikely benign
Select item 3200125	NM_025176.6(NINL):c.3040G>A (p.Val1014Met)	NINL (V1014M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059348	NM_025176.6(NINL):c.3039T>C (p.Ser1013=)	NINL	Single nucleotide variant (synonymous variant +1 more)	NINL-related disorder	GBenign
Select item 2277823	NM_025176.6(NINL):c.3037A>G (p.Ser1013Gly)	NINL (S1013G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2652250	NM_025176.6(NINL):c.2904C>T (p.Cys968=)	NINL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3060935	NM_025176.6(NINL):c.2872_2877del (p.Trp958_Glu959del)	NINL	Deletion (inframe deletion +1 more)	NINL-related disorder	GBenign
Select item 3200124	NM_025176.6(NINL):c.2789C>T (p.Ala930Val)	NINL (A930V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524226	NM_025176.6(NINL):c.2690C>T (p.Pro897Leu)	NINL (P897L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2302157	NM_025176.6(NINL):c.2680G>A (p.Ala894Thr)	NINL (A894T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606953	NM_025176.6(NINL):c.2674G>T (p.Ala892Ser)	NINL (A892S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200123	NM_025176.6(NINL):c.2669G>A (p.Ser890Asn)	NINL (S890N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200121	NM_025176.6(NINL):c.2644G>A (p.Ala882Thr)	NINL (A882T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200120	NM_025176.6(NINL):c.2636G>A (p.Arg879His)	NINL (R879H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615231	NM_025176.6(NINL):c.2636G>T (p.Arg879Leu)	NINL (R879L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596112	NM_025176.6(NINL):c.2614G>A (p.Ala872Thr)	NINL (A872T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200119	NM_025176.6(NINL):c.2560G>A (p.Gly854Arg)	NINL (G854R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3046923	NM_025176.6(NINL):c.2552C>T (p.Pro851Leu)	NINL (P851L)	Single nucleotide variant (missense variant +1 more)	NINL-related disorder	GLikely benign
Select item 3200118	NM_025176.6(NINL):c.2513G>A (p.Ser838Asn)	NINL (S838N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200117	NM_025176.6(NINL):c.2488C>A (p.Pro830Thr)	NINL (P830T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200116	NM_025176.6(NINL):c.2485C>G (p.Leu829Val)	NINL (L829V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270671	NM_025176.6(NINL):c.2478G>C (p.Met826Ile)	NINL (M826I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393999	NM_025176.6(NINL):c.2474A>G (p.Glu825Gly)	NINL (E825G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536302	NM_025176.6(NINL):c.2458C>T (p.Pro820Ser)	NINL (P820S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047302	NM_025176.6(NINL):c.2372C>T (p.Ala791Val)	NINL (A791V)	Single nucleotide variant (missense variant +1 more)	NINL-related disorder	GLikely benign
Select item 2430011	NM_025176.6(NINL):c.2344G>T (p.Glu782Ter)	NINL (E782*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2565268	NM_025176.6(NINL):c.2314G>A (p.Gly772Arg)	NINL (G772R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372037	NM_025176.6(NINL):c.2249C>T (p.Ala750Val)	NINL (A750V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042842	NM_025176.6(NINL):c.2237C>T (p.Ser746Leu)	NINL (S746L)	Single nucleotide variant (missense variant +1 more)	NINL-related disorder	GBenign
Select item 2519006	NM_025176.6(NINL):c.2174G>A (p.Arg725Gln)	NINL (R725Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429821	NM_025176.6(NINL):c.2086C>T (p.Gln696Ter)	NINL (Q696*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2471289	NM_025176.6(NINL):c.2050G>A (p.Glu684Lys)	NINL (E684K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313844	NM_025176.6(NINL):c.2017G>A (p.Glu673Lys)	NINL (E673K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345999	NM_025176.6(NINL):c.2011G>A (p.Val671Met)	NINL (V671M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216811	NM_025176.6(NINL):c.1993C>T (p.Arg665Cys)	NINL (R665C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200113	NM_025176.6(NINL):c.1919T>C (p.Val640Ala)	NINL (V640A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200112	NM_025176.6(NINL):c.1918G>T (p.Val640Leu)	NINL (V640L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614328	NM_025176.6(NINL):c.1869G>C (p.Glu623Asp)	NINL (E623D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200111	NM_025176.6(NINL):c.1783C>T (p.Arg595Trp)	NINL (R595W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152985	GRCh38/hg38 20p11.21(chr20:25485770-25612650)x3	LOC121627901, LOC125387247 +3 more	Copy number gain	See cases	GBenign
Select item 148112	GRCh38/hg38 20p11.21(chr20:25485770-25612660)x3	LOC121627901, LOC125387247 +3 more	Copy number gain	See cases	GBenign
Select item 3200110	NM_025176.6(NINL):c.1642G>A (p.Ala548Thr)	NINL (A548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039538	NM_025176.6(NINL):c.1637G>A (p.Arg546Gln)	NINL (R546Q)	Single nucleotide variant (missense variant)	NINL-related disorder	GBenign
Select item 2283583	NM_025176.6(NINL):c.1630G>C (p.Glu544Gln)	NINL (E544Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491337	NM_025176.6(NINL):c.1547G>T (p.Arg516Met)	NINL (R516M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554670	NM_025176.6(NINL):c.1459C>T (p.Arg487Cys)	NINL (R487C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490696	NM_025176.6(NINL):c.1445A>G (p.Glu482Gly)	NINL (E482G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200109	NM_025176.6(NINL):c.1433G>A (p.Arg478His)	NINL (R478H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388351	NM_025176.6(NINL):c.1420T>G (p.Trp474Gly)	NINL (W474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404064	NM_025176.6(NINL):c.1411G>A (p.Ala471Thr)	NINL (A471T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200108	NM_025176.6(NINL):c.1406G>C (p.Arg469Thr)	NINL (R469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365768	NM_025176.6(NINL):c.1382T>A (p.Phe461Tyr)	NINL (F461Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048694	NM_025176.6(NINL):c.1367C>T (p.Ala456Val)	NINL (A456V)	Single nucleotide variant (missense variant)	NINL-related disorder	GBenign
Select item 3200107	NM_025176.6(NINL):c.1263G>A (p.Met421Ile)	NINL (M421I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200106	NM_025176.6(NINL):c.1219C>G (p.Leu407Val)	NINL (L407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200105	NM_025176.6(NINL):c.1199G>A (p.Arg400His)	NINL (R400H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593403	NM_025176.6(NINL):c.1198C>T (p.Arg400Cys)	NINL (R400C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200104	NM_025176.6(NINL):c.1132G>A (p.Ala378Thr)	NINL (A378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200103	NM_025176.6(NINL):c.1120G>A (p.Val374Ile)	NINL (V374I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354621	NM_025176.6(NINL):c.949G>A (p.Asp317Asn)	NINL (D317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632724	NM_025176.6(NINL):c.881G>A (p.Cys294Tyr)	NINL (C294Y)	Single nucleotide variant (missense variant)	NINL-related disorder	GUncertain significance
Select item 2355613	NM_025176.6(NINL):c.869A>C (p.Glu290Ala)	NINL (E290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200134	NM_025176.6(NINL):c.803C>T (p.Ala268Val)	NINL (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302454	NM_025176.6(NINL):c.703A>G (p.Lys235Glu)	NINL (K235E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200133	NM_025176.6(NINL):c.656A>G (p.Gln219Arg)	NINL (Q219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213233	NM_025176.6(NINL):c.652G>C (p.Glu218Gln)	NINL (E218Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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