ClinVar for Gene (Select 100131211) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299284	NM_001142645.2(NEMP2):c.827G>A (p.Arg276Gln)	NEMP2 (R276Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299282	NM_001142645.2(NEMP2):c.482G>C (p.Gly161Ala)	NEMP2 (G161A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299281	NM_001142645.2(NEMP2):c.173A>C (p.Asn58Thr)	NEMP2 (N58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294562	NM_017694.4(MFSD6):c.2332G>A (p.Glu778Lys)	MFSD6, NEMP2 (E240K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294561	NM_017694.4(MFSD6):c.1034G>C (p.Gly345Ala)	MFSD6, NEMP2 (G345A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294560	NM_017694.4(MFSD6):c.2299C>G (p.Pro767Ala)	MFSD6, NEMP2 (P229A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294559	NM_017694.4(MFSD6):c.1174C>T (p.Arg392Cys)	MFSD6, NEMP2 (R392C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193544	NM_001142645.2(NEMP2):c.694T>C (p.Trp232Arg)	NEMP2 (W232R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193526	NM_001142645.2(NEMP2):c.559G>A (p.Val187Ile)	NEMP2 (V187I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193510	NM_001142645.2(NEMP2):c.233G>C (p.Gly78Ala)	NEMP2 (G78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193506	NM_001142645.2(NEMP2):c.167A>G (p.Asn56Ser)	NEMP2 (N56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193492	NM_001142645.2(NEMP2):c.100C>T (p.Arg34Cys)	NEMP2 (R34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125816	NM_017694.4(MFSD6):c.253C>T (p.Leu85Phe)	MFSD6, NEMP2 (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125815	NM_017694.4(MFSD6):c.2305C>A (p.His769Asn)	MFSD6, NEMP2 (H769N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125814	NM_017694.4(MFSD6):c.2299C>T (p.Pro767Ser)	MFSD6, NEMP2 (P229S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125813	NM_017694.4(MFSD6):c.2216A>G (p.Gln739Arg)	MFSD6, NEMP2 (Q201R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3125812	NM_017694.4(MFSD6):c.2068G>A (p.Val690Ile)	MFSD6, NEMP2 (V152I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125810	NM_017694.4(MFSD6):c.1823T>C (p.Met608Thr)	MFSD6, NEMP2 (M608T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125809	NM_017694.4(MFSD6):c.1690C>G (p.Pro564Ala)	MFSD6, NEMP2 (P26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125808	NM_017694.4(MFSD6):c.1208G>C (p.Gly403Ala)	MFSD6, NEMP2 (G403A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616742	NM_017694.4(MFSD6):c.1994T>C (p.Ile665Thr)	MFSD6, NEMP2 (I665T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615635	NM_017694.4(MFSD6):c.1439C>T (p.Thr480Ile)	MFSD6, NEMP2 (T480I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605728	NM_017694.4(MFSD6):c.2012C>T (p.Pro671Leu)	MFSD6, NEMP2 (P671L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602368	NM_017694.4(MFSD6):c.1216G>T (p.Val406Leu)	MFSD6, NEMP2 (V406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597934	NM_001142645.2(NEMP2):c.820A>G (p.Met274Val)	NEMP2 (M274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2553365	NM_017694.4(MFSD6):c.85A>G (p.Ile29Val)	MFSD6, NEMP2 (I29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552490	NM_017694.4(MFSD6):c.1106A>G (p.Gln369Arg)	MFSD6, NEMP2 (Q369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538988	NM_001142645.2(NEMP2):c.88G>C (p.Ala30Pro)	LOC129935255, NEMP2 (A30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524137	NM_017694.4(MFSD6):c.1226C>T (p.Pro409Leu)	MFSD6, NEMP2 (P409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471692	NM_017694.4(MFSD6):c.2236C>A (p.His746Asn)	MFSD6, NEMP2 (H208N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468581	NM_001142645.2(NEMP2):c.1084G>A (p.Asp362Asn)	NEMP2 (D362N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466418	NM_017694.4(MFSD6):c.487A>G (p.Ile163Val)	MFSD6, NEMP2 (I163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463463	NM_017694.4(MFSD6):c.275A>G (p.Tyr92Cys)	MFSD6, NEMP2 (Y92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460200	NM_017694.4(MFSD6):c.1289C>T (p.Ser430Leu)	MFSD6, NEMP2 (S430L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458163	NM_017694.4(MFSD6):c.1241A>G (p.Asn414Ser)	MFSD6, NEMP2 (N414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 2406906	NM_017694.4(MFSD6):c.1129G>A (p.Val377Ile)	MFSD6, NEMP2 (V377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405757	NM_017694.4(MFSD6):c.794C>T (p.Thr265Ile)	MFSD6, NEMP2 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405263	NM_001142645.2(NEMP2):c.1024C>A (p.Gln342Lys)	NEMP2 (Q342K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390519	NM_001142645.2(NEMP2):c.321C>G (p.Asn107Lys)	NEMP2 (N107K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388549	NM_017694.4(MFSD6):c.822A>C (p.Gln274His)	MFSD6, NEMP2 (Q274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376636	NM_001142645.2(NEMP2):c.77C>T (p.Ala26Val)	LOC129935255, NEMP2 (A26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376625	NM_017694.4(MFSD6):c.2302G>A (p.Ala768Thr)	MFSD6, NEMP2 (A230T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373904	NM_001142645.2(NEMP2):c.667G>A (p.Val223Ile)	NEMP2 (V223I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365640	NM_017694.4(MFSD6):c.1033G>A (p.Gly345Arg)	MFSD6, NEMP2 (G345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362050	NM_001142645.2(NEMP2):c.602T>C (p.Phe201Ser)	NEMP2 (F201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354583	NM_017694.4(MFSD6):c.2312G>T (p.Ser771Ile)	MFSD6, NEMP2 (S233I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353195	NM_017694.4(MFSD6):c.817G>T (p.Asp273Tyr)	MFSD6, NEMP2 (D273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342154	NM_017694.4(MFSD6):c.329G>A (p.Arg110His)	MFSD6, NEMP2 (R110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329553	NM_017694.4(MFSD6):c.2350G>C (p.Ala784Pro)	MFSD6, NEMP2 (A246P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321763	NM_001142645.2(NEMP2):c.620C>A (p.Thr207Asn)	NEMP2 (T207N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310468	NM_017694.4(MFSD6):c.922A>G (p.Ile308Val)	MFSD6, NEMP2 (I308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304557	NM_001142645.2(NEMP2):c.1109C>G (p.Ser370Cys)	NEMP2 (S370C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299307	NM_017694.4(MFSD6):c.767C>T (p.Thr256Ile)	MFSD6, NEMP2 (T256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289861	NM_017694.4(MFSD6):c.1283G>T (p.Ser428Ile)	MFSD6, NEMP2 (S428I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289409	NM_001142645.2(NEMP2):c.247G>A (p.Val83Ile)	NEMP2 (V83I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280264	NM_001142645.2(NEMP2):c.934G>A (p.Ala312Thr)	NEMP2 (A312T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266818	NM_001142645.2(NEMP2):c.658G>A (p.Val220Ile)	NEMP2 (V220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265132	NM_017694.4(MFSD6):c.586C>T (p.Arg196Cys)	MFSD6, NEMP2 (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259884	NM_017694.4(MFSD6):c.1261G>C (p.Glu421Gln)	MFSD6, NEMP2 (E421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245058	NM_017694.4(MFSD6):c.1175G>A (p.Arg392His)	MFSD6, NEMP2 (R392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241549	NM_017694.4(MFSD6):c.904A>T (p.Ser302Cys)	MFSD6, NEMP2 (S302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240673	NM_017694.4(MFSD6):c.1607T>G (p.Val536Gly)	MFSD6, NEMP2 (V536G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235697	NM_017694.4(MFSD6):c.733A>T (p.Ser245Cys)	MFSD6, NEMP2 (S245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234736	NM_001142645.2(NEMP2):c.529T>A (p.Phe177Ile)	NEMP2 (F177I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211107	NM_001142645.2(NEMP2):c.73G>A (p.Glu25Lys)	LOC129935255, NEMP2 (E25K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205144	NM_001142645.2(NEMP2):c.557G>C (p.Gly186Ala)	NEMP2 (G186A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 788961	NM_017694.4(MFSD6):c.945G>A (p.Gln315=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780857	NM_017694.4(MFSD6):c.161T>C (p.Ile54Thr)	MFSD6, NEMP2 (I54T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777960	NM_017694.4(MFSD6):c.885C>T (p.Val295=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 772854	NM_017694.4(MFSD6):c.198C>T (p.Asn66=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	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: 98