ClinVar for Gene (Select 113655) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294554	NM_138431.3(MFSD3):c.1012G>A (p.Val338Ile)	MFSD3 (V338I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294553	NM_138431.3(MFSD3):c.895G>A (p.Ala299Thr)	MFSD3 (A299T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294552	NM_138431.3(MFSD3):c.773C>A (p.Ala258Asp)	MFSD3 (A258D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294551	NM_138431.3(MFSD3):c.539T>A (p.Leu180Gln)	MFSD3 (L180Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294550	NM_138431.3(MFSD3):c.1112T>A (p.Leu371Gln)	MFSD3 (L371Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294549	NM_138431.3(MFSD3):c.1006A>T (p.Thr336Ser)	MFSD3 (T336S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3125798	NM_138431.3(MFSD3):c.998G>T (p.Gly333Val)	MFSD3 (G333V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125797	NM_138431.3(MFSD3):c.977G>T (p.Cys326Phe)	MFSD3 (C326F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125796	NM_138431.3(MFSD3):c.862C>T (p.Arg288Cys)	MFSD3 (R288C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125795	NM_138431.3(MFSD3):c.644C>A (p.Thr215Asn)	MFSD3 (T215N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125794	NM_138431.3(MFSD3):c.614T>C (p.Leu205Pro)	MFSD3 (L205P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125793	NM_138431.3(MFSD3):c.404G>A (p.Gly135Asp)	MFSD3 (G135D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125792	NM_138431.3(MFSD3):c.31C>T (p.Leu11Phe)	MFSD3 (L11F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125791	NM_138431.3(MFSD3):c.1231T>C (p.Phe411Leu)	MFSD3 (F411L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3125790	NM_138431.3(MFSD3):c.118G>A (p.Val40Met)	MFSD3 (V40M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GML, KCNQ3 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2594460	NM_138431.3(MFSD3):c.742C>T (p.Pro248Ser)	MFSD3 (P248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556891	NM_138431.3(MFSD3):c.1091C>T (p.Thr364Met)	MFSD3 (T364M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532556	NM_138431.3(MFSD3):c.1079G>A (p.Ser360Asn)	MFSD3 (S360N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520224	NM_138431.3(MFSD3):c.499T>C (p.Phe167Leu)	MFSD3 (F167L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511403	NM_138431.3(MFSD3):c.332G>A (p.Gly111Asp)	MFSD3 (G111D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472742	NM_138431.3(MFSD3):c.142G>A (p.Ala48Thr)	MFSD3 (A48T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2412242	NM_138431.3(MFSD3):c.745G>A (p.Glu249Lys)	MFSD3 (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409036	NM_138431.3(MFSD3):c.134T>C (p.Val45Ala)	MFSD3 (V45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401959	NM_138431.3(MFSD3):c.547G>A (p.Ala183Thr)	MFSD3 (A183T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392771	NM_138431.3(MFSD3):c.595C>T (p.Arg199Cys)	MFSD3 (R199C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378903	NM_138431.3(MFSD3):c.914A>T (p.Asp305Val)	MFSD3 (D305V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378059	NM_138431.3(MFSD3):c.868C>T (p.Arg290Cys)	MFSD3 (R290C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358725	NM_138431.3(MFSD3):c.1046T>C (p.Leu349Pro)	MFSD3 (L349P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326270	NM_138431.3(MFSD3):c.115C>T (p.Arg39Cys)	MFSD3 (R39C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320952	NM_138431.3(MFSD3):c.1169T>G (p.Phe390Cys)	MFSD3 (F390C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320488	NM_138431.3(MFSD3):c.437G>C (p.Gly146Ala)	MFSD3 (G146A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317113	NM_138431.3(MFSD3):c.212C>T (p.Thr71Met)	MFSD3 (T71M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314233	NM_138431.3(MFSD3):c.1034G>A (p.Arg345His)	MFSD3 (R345H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2312814	NM_138431.3(MFSD3):c.496C>T (p.Leu166Phe)	MFSD3 (L166F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310095	NM_138431.3(MFSD3):c.770G>A (p.Gly257Asp)	MFSD3 (G257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278567	NM_138431.3(MFSD3):c.626T>G (p.Val209Gly)	MFSD3 (V209G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254868	NM_138431.3(MFSD3):c.70G>A (p.Gly24Ser)	MFSD3 (G24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252361	NM_138431.3(MFSD3):c.485C>T (p.Ser162Leu)	MFSD3 (S162L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224509	NM_138431.3(MFSD3):c.401C>G (p.Pro134Arg)	MFSD3 (P134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217494	NM_138431.3(MFSD3):c.1132G>A (p.Gly378Arg)	MFSD3 (G378R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1411106	NC_000008.10:g.(?_145729802)_(145737046_?)del	GPT, MFSD3 +1 more	Deletion	Baller-Gerold syndrome	GUncertain significance
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	GUncertain significance
Select item 980336	GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3	MIR1234, PPP1R16A +19 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686570	GRCh37/hg19 8q24.3(chr8:145695493-145798535)x3	ARHGAP39, C8orf82 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 686073	GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1	ARHGAP39, C8orf82 +11 more	Copy number loss	not provided	GUncertain significance
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441954	GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3	ADCK5, ARHGAP39 +50 more	Copy number gain	See cases	GUncertain significance
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic
Select item 253782	GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3	ADCK5, ARHGAP39 +15 more	Copy number gain	See cases	GUncertain significance
Select item 219037	GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3	ADCK5, ARHGAP39 +15 more	Copy number gain	See cases	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic

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