MFSD6[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 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 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	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 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +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	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 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)	Inborn genetic diseases	GUncertain significance
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 772854	NM_017694.4(MFSD6):c.198C>T (p.Asn66=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463463	NM_017694.4(MFSD6):c.275A>G (p.Tyr92Cys)	MFSD6, NEMP2 (Y92C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342154	NM_017694.4(MFSD6):c.329G>A (p.Arg110His)	NEMP2, MFSD6 (R110H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466418	NM_017694.4(MFSD6):c.487A>G (p.Ile163Val)	MFSD6, NEMP2 (I163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265132	NM_017694.4(MFSD6):c.586C>T (p.Arg196Cys)	NEMP2, MFSD6 (R196C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235697	NM_017694.4(MFSD6):c.733A>T (p.Ser245Cys)	MFSD6, NEMP2 (S245C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299307	NM_017694.4(MFSD6):c.767C>T (p.Thr256Ile)	MFSD6, NEMP2 (T256I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405757	NM_017694.4(MFSD6):c.794C>T (p.Thr265Ile)	MFSD6, NEMP2 (T265I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353195	NM_017694.4(MFSD6):c.817G>T (p.Asp273Tyr)	MFSD6, NEMP2 (D273Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388549	NM_017694.4(MFSD6):c.822A>C (p.Gln274His)	MFSD6, NEMP2 (Q274H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777960	NM_017694.4(MFSD6):c.885C>T (p.Val295=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2241549	NM_017694.4(MFSD6):c.904A>T (p.Ser302Cys)	NEMP2, MFSD6 (S302C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310468	NM_017694.4(MFSD6):c.922A>G (p.Ile308Val)	NEMP2, MFSD6 (I308V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788961	NM_017694.4(MFSD6):c.945G>A (p.Gln315=)	MFSD6, NEMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2365640	NM_017694.4(MFSD6):c.1033G>A (p.Gly345Arg)	MFSD6, NEMP2 (G345R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552490	NM_017694.4(MFSD6):c.1106A>G (p.Gln369Arg)	MFSD6, NEMP2 (Q369R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406906	NM_017694.4(MFSD6):c.1129G>A (p.Val377Ile)	NEMP2, MFSD6 (V377I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245058	NM_017694.4(MFSD6):c.1175G>A (p.Arg392His)	MFSD6, NEMP2 (R392H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602368	NM_017694.4(MFSD6):c.1216G>T (p.Val406Leu)	MFSD6, NEMP2 (V406L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524137	NM_017694.4(MFSD6):c.1226C>T (p.Pro409Leu)	MFSD6, NEMP2 (P409L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458163	NM_017694.4(MFSD6):c.1241A>G (p.Asn414Ser)	MFSD6, NEMP2 (N414S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259884	NM_017694.4(MFSD6):c.1261G>C (p.Glu421Gln)	MFSD6, NEMP2 (E421Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289861	NM_017694.4(MFSD6):c.1283G>T (p.Ser428Ile)	MFSD6, NEMP2 (S428I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460200	NM_017694.4(MFSD6):c.1289C>T (p.Ser430Leu)	MFSD6, NEMP2 (S430L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615635	NM_017694.4(MFSD6):c.1439C>T (p.Thr480Ile)	MFSD6, NEMP2 (T480I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240673	NM_017694.4(MFSD6):c.1607T>G (p.Val536Gly)	NEMP2, MFSD6 (V536G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616742	NM_017694.4(MFSD6):c.1994T>C (p.Ile665Thr)	MFSD6, NEMP2 (I665T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605728	NM_017694.4(MFSD6):c.2012C>T (p.Pro671Leu)	MFSD6, NEMP2 (P671L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2329553	NM_017694.4(MFSD6):c.2350G>C (p.Ala784Pro)	NEMP2, MFSD6 (A246P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +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

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Items: 62