FABP2[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC123480933, LOC123480934 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 more	Copy number loss	See cases	GPathogenic
Select item 150371	GRCh38/hg38 4q26(chr4:118858868-119856165)x3	C4orf3, FABP2 +22 more	Copy number gain	See cases	GLikely benign
Select item 1226605	NM_000134.4(FABP2):c.*252G>A	FABP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1236503	NM_000134.4(FABP2):c.*65A>G	FABP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226479	NM_000134.4(FABP2):c.*15G>A	FABP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259953	NM_000134.4(FABP2):c.357A>G (p.Val119=)	FABP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292752	NM_000134.4(FABP2):c.317T>C (p.Val106Ala)	FABP2 (V106A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365805	NM_000134.4(FABP2):c.304G>A (p.Glu102Lys)	FABP2 (E102K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459741	NM_000134.4(FABP2):c.286C>T (p.Arg96Trp)	FABP2 (R96W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1265548	NM_000134.4(FABP2):c.241-34TAT[13]	FABP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1248668	NM_000134.4(FABP2):c.241-34TAT[11]	FABP2	Microsatellite (intron variant)	not provided	GBenign
Select item 767974	NM_000134.4(FABP2):c.241-34TAT[14]	FABP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1250553	NM_000134.4(FABP2):c.241-34TAT[9]	FABP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1288549	NM_000134.4(FABP2):c.241-136A>G	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229026	NM_000134.4(FABP2):c.240+179T>C	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269485	NM_000134.4(FABP2):c.240+166A>G	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289789	NM_000134.4(FABP2):c.240+151G>A	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263767	NM_000134.4(FABP2):c.240+100G>T	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232917	NM_000134.4(FABP2):c.216T>C (p.Asn72=)	FABP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 16494	NM_000134.4(FABP2):c.163A>G (p.Thr55Ala)	FABP2 (T55A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655053	NM_000134.4(FABP2):c.147A>C (p.Thr49=)	FABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292753	NM_000134.4(FABP2):c.76A>G (p.Ile26Val)	FABP2 (I26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2382384	NM_000134.4(FABP2):c.68G>A (p.Gly23Asp)	FABP2 (G23D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241519	NM_000134.4(FABP2):c.68-148G>A	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241534	NM_000134.4(FABP2):c.68-167T>G	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266765	NM_000134.4(FABP2):c.68-315G>A	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288325	NM_000134.4(FABP2):c.67+262C>A	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251577	NM_000134.4(FABP2):c.67+156C>T	FABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229473	NC_000004.12:g.119322182del	FABP2	Deletion	not provided	GBenign
Select item 1246176	NC_000004.12:g.119322197C>T	FABP2	Single nucleotide variant	not provided	GBenign
Select item 1261472	NC_000004.12:g.119322237_119322238insCTCTA	FABP2	Insertion	not provided	GBenign
Select item 1268685	NC_000004.12:g.119322356T>C	FABP2	Single nucleotide variant	not provided	GBenign
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2685127	GRCh37/hg19 4q26(chr4:120191741-120245035)x1	C4orf3, FABP2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527120	GRCh37/hg19 4q26-27(chr4:119902254-121463237)	C4orf3, FABP2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	ABHD18, ADAD1 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 814604	GRCh37/hg19 4q26(chr4:120191740-120248879)x1	C4orf3, USP53 +1 more	Copy number loss	not provided	GUncertain significance
Select item 635942	Single allele	ADAD1, ANKRD50 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562964	GRCh37/hg19 4q26(chr4:120003576-120689244)x3	PDE5A, C4orf3 +3 more	Copy number gain	not provided	GLikely benign
Select item 562960	GRCh37/hg19 4q26(chr4:117108352-120317108)x1	NDST3, SEC24D +9 more	Copy number loss	not provided	GUncertain significance
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 57