ClinVar for Gene (Select 8880) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3097421	NM_003902.5(FUBP1):c.641G>A (p.Arg214Gln)	FUBP1 (R235Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097420	NM_003902.5(FUBP1):c.498G>T (p.Gln166His)	FUBP1 (Q166H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097419	NM_003902.5(FUBP1):c.443G>A (p.Cys148Tyr)	FUBP1 (C148Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097418	NM_003902.5(FUBP1):c.1517C>T (p.Ala506Val)	FUBP1 (A526V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097417	NM_003902.5(FUBP1):c.1285A>T (p.Ile429Phe)	FUBP1 (I449F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097416	NM_003902.5(FUBP1):c.1115C>A (p.Pro372Gln)	FUBP1 (P371Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ADGRL4, AK5 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685808	GRCh37/hg19 1p31.1(chr1:78421460-79541287)x3	ADGRL4, DNAJB4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2608276	NM_003902.5(FUBP1):c.1624G>A (p.Ala542Thr)	FUBP1 (A541T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536832	NM_003902.5(FUBP1):c.1802C>T (p.Thr601Ile)	FUBP1 (T600I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488581	NM_003902.5(FUBP1):c.1127T>C (p.Leu376Pro)	FUBP1 (L375P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485085	NM_003902.5(FUBP1):c.155C>T (p.Ser52Leu)	FUBP1 (S52L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457620	NM_003902.5(FUBP1):c.1670C>T (p.Ala557Val)	FUBP1 (A556V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394363	NM_003902.5(FUBP1):c.548C>T (p.Pro183Leu)	FUBP1 (P204L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322141	NM_003902.5(FUBP1):c.1349C>T (p.Pro450Leu)	FUBP1 (P449L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252579	NM_003902.5(FUBP1):c.1481C>G (p.Pro494Arg)	FUBP1 (P493R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229463	NM_003902.5(FUBP1):c.1327A>G (p.Ile443Val)	FUBP1 (I463V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219605	NM_003902.5(FUBP1):c.1285A>G (p.Ile429Val)	FUBP1 (I429V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808070	GRCh37/hg19 1p31.1(chr1:78356361-78648139)x3	DNAJB4, FUBP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814105	GRCh37/hg19 1p31.1(chr1:78257937-79159519)x3	MIGA1, NEXN +6 more	Copy number gain	not provided	GUncertain significance
Select item 783289	NM_003902.5(FUBP1):c.1203C>T (p.Ser401=)	FUBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 777912	NM_003902.5(FUBP1):c.54T>C (p.Gly18=)	FUBP1, LOC129930801	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686509	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686133	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	LHX8, MIGA1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 402886	NM_003902.5(FUBP1):c.1042-8C>G	FUBP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 221322	NM_003902.5(FUBP1):c.1611G>A (p.Trp537Ter)	FUBP1 (W537* +3 more)	Single nucleotide variant (nonsense +1 more)	Breast ductal adenocarcinoma	GUncertain significance
Select item 152108	GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1	ADGRL4, DNAJB4 +33 more	Copy number loss	See cases	GUncertain significance
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 134461	NM_003902.5(FUBP1):c.538G>T (p.Gly180Cys)	FUBP1 (G180C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134460	NM_003902.5(FUBP1):c.243A>C (p.Gln81His)	FUBP1 (Q81H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134459	NM_003902.5(FUBP1):c.1801A>G (p.Thr601Ala)	FUBP1 (T601A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134458	NM_003902.5(FUBP1):c.1588A>G (p.Thr530Ala)	FUBP1 (T530A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134457	NM_003902.5(FUBP1):c.1429C>T (p.Pro477Ser)	FUBP1 (P477S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 134456	NM_003902.5(FUBP1):c.992G>A (p.Arg331Gln)	FUBP1 (R331Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134455	NM_003902.5(FUBP1):c.56G>A (p.Gly19Asp)	FUBP1, LOC129930801 (G19D)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided

ClinVar

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Links from Gene

Items: 47