MFSD2B[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 148077	GRCh38/hg38 2p24.1-23.3(chr2:23789282-24087112)x1	ATAD2B, FAM228B +19 more	Copy number loss	See cases	GUncertain significance
Select item 3125781	NM_001346880.2(MFSD2B):c.11C>T (p.Pro4Leu)	MFSD2B (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650712	NM_001346880.2(MFSD2B):c.21A>G (p.Pro7=)	MFSD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3125786	NM_001346880.2(MFSD2B):c.64C>G (p.Pro22Ala)	MFSD2B (P22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125788	NM_001346880.2(MFSD2B):c.71C>A (p.Pro24Gln)	MFSD2B (P24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477197	NM_001346880.2(MFSD2B):c.112C>G (p.Arg38Gly)	MFSD2B (R38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294548	NM_001346880.2(MFSD2B):c.158C>T (p.Pro53Leu)	MFSD2B (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219163	NM_001346880.2(MFSD2B):c.206T>G (p.Leu69Arg)	MFSD2B (L69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3395548	NM_001346880.2(MFSD2B):c.214A>G (p.Ile72Val)	MFSD2B (I72V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3395544	NM_001346880.2(MFSD2B):c.275C>T (p.Ala92Val)	MFSD2B (A92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598793	NM_001346880.2(MFSD2B):c.335G>A (p.Arg112Gln)	MFSD2B (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242432	NM_001346880.2(MFSD2B):c.445T>A (p.Tyr149Asn)	MFSD2B (Y149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287623	NM_001346880.2(MFSD2B):c.494C>G (p.Ala165Gly)	MFSD2B (A165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3395550	NM_001346880.2(MFSD2B):c.535T>C (p.Ser179Pro)	MFSD2B (S179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125784	NM_001346880.2(MFSD2B):c.536C>T (p.Ser179Leu)	MFSD2B (S179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125785	NM_001346880.2(MFSD2B):c.544G>T (p.Ala182Ser)	MFSD2B (A182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3395547	NM_001346880.2(MFSD2B):c.577C>A (p.Leu193Met)	MFSD2B (L193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397627	NM_001346880.2(MFSD2B):c.592G>A (p.Val198Ile)	MFSD2B (V198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590803	NM_001346880.2(MFSD2B):c.613G>A (p.Gly205Ser)	MFSD2B (G205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246259	NM_001346880.2(MFSD2B):c.616G>A (p.Ala206Thr)	MFSD2B (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206672	NM_001346880.2(MFSD2B):c.621C>A (p.His207Gln)	MFSD2B (H207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231163	NM_001346880.2(MFSD2B):c.689T>C (p.Leu230Pro)	MFSD2B (L230P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476195	NM_001346880.2(MFSD2B):c.701C>T (p.Ala234Val)	MFSD2B (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125787	NM_001346880.2(MFSD2B):c.709G>A (p.Val237Met)	MFSD2B (V237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125789	NM_001346880.2(MFSD2B):c.766C>T (p.Arg256Trp)	MFSD2B (R256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3395545	NM_001346880.2(MFSD2B):c.806G>A (p.Ser269Asn)	MFSD2B (S269N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273933	NM_001346880.2(MFSD2B):c.916C>G (p.Leu306Val)	MFSD2B (L306V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294547	NM_001346880.2(MFSD2B):c.976C>G (p.Leu326Val)	MFSD2B (L326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589648	NM_001346880.2(MFSD2B):c.1040C>T (p.Thr347Met)	MFSD2B (T347M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558377	NM_001346880.2(MFSD2B):c.1069C>T (p.Pro357Ser)	MFSD2B (P357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342989	NM_001346880.2(MFSD2B):c.1120G>A (p.Val374Met)	MFSD2B (V374M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125780	NM_001346880.2(MFSD2B):c.1186G>A (p.Val396Met)	LOC122756669, MFSD2B (V396M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567732	NM_001346880.2(MFSD2B):c.1202A>C (p.Gln401Pro)	LOC122756669, MFSD2B (Q401P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471927	NM_001346880.2(MFSD2B):c.1235C>A (p.Thr412Asn)	LOC122756669, MFSD2B (T412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294546	NM_001346880.2(MFSD2B):c.1276G>C (p.Gly426Arg)	LOC122756669, MFSD2B (G426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125782	NM_001346880.2(MFSD2B):c.1282T>C (p.Cys428Arg)	LOC122756669, MFSD2B (C428R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125783	NM_001346880.2(MFSD2B):c.1325A>G (p.Tyr442Cys)	LOC122756669, MFSD2B (Y442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460960	NM_001346880.2(MFSD2B):c.1336G>T (p.Val446Phe)	LOC122756669, MFSD2B (V446F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495544	NM_001346880.2(MFSD2B):c.1342A>G (p.Lys448Glu)	LOC122756669, MFSD2B (K448E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243938	NM_001346880.2(MFSD2B):c.1348G>A (p.Ala450Thr)	LOC122756669, MFSD2B (A450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3395549	NM_001346880.2(MFSD2B):c.1382T>G (p.Ile461Ser)	LOC122756669, MFSD2B (I461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597103	NM_001346880.2(MFSD2B):c.1387G>A (p.Ala463Thr)	LOC122756669, MFSD2B (A463T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226582	NM_001346880.2(MFSD2B):c.1409T>C (p.Leu470Pro)	LOC122756669, MFSD2B (L470P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594571	NM_001346880.2(MFSD2B):c.1435G>A (p.Gly479Ser)	LOC122756669, MFSD2B (G479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325540	NM_001346880.2(MFSD2B):c.1447A>G (p.Lys483Glu)	LOC122756669, MFSD2B (K483E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3395546	NM_001346880.2(MFSD2B):c.1459C>T (p.Arg487Trp)	LOC122756669, MFSD2B (R487W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544305	NM_001346880.2(MFSD2B):c.1460G>C (p.Arg487Pro)	LOC122756669, MFSD2B (R487P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330706	NM_001346880.2(MFSD2B):c.1486C>T (p.Arg496Trp)	LOC122756669, MFSD2B (R496W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459255	NM_001346880.2(MFSD2B):c.1487G>A (p.Arg496Gln)	LOC122756669, MFSD2B (R496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391842	GRCh37/hg19 2p24.1-22.2(chr2:20938401-37327210)x3	ABHD1, ADCY3 +112 more	Copy number gain	not provided	GPathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 1808931	GRCh37/hg19 2p24.1-23.3(chr2:23908436-24636185)x3	ATAD2B, FAM228A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1686655	GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1	FAM228A, FAM228B +19 more	Copy number loss	2p24.1p23.3 microdeletion syndrome	GPathogenic
Select item 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	GPathogenic
Select item 562549	GRCh37/hg19 2p23.3(chr2:24058035-24283976)x1	FKBP1B, UBXN2A +3 more	Copy number loss	not provided	GUncertain significance
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 441048	GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1	CENPO, ADCY3 +16 more	Copy number loss	not provided	Gnot provided

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Items: 69