FABP12[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
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 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	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 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 1338848	GRCh38/hg38 8q21.13(chr8:81061071-81682394)	FABP12, FABP4 +23 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 148749	GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3	CHMP4C, FABP12 +19 more	Copy number gain	See cases	GLikely benign
Select item 2473880	NM_001105281.6(FABP12):c.392A>T (p.Lys131Ile)	FABP12 (K131I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347002	NM_001105281.6(FABP12):c.343G>A (p.Val115Met)	FABP12 (V115M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091542	NM_001105281.6(FABP12):c.317C>T (p.Thr106Met)	FABP12 (T106M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091541	NM_001105281.6(FABP12):c.283G>C (p.Val95Leu)	FABP12 (V95L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588010	NM_001105281.6(FABP12):c.283G>A (p.Val95Ile)	FABP12 (V95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246481	NM_001105281.6(FABP12):c.257C>T (p.Thr86Ile)	FABP12 (T86I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249992	NM_001105281.6(FABP12):c.221T>C (p.Ile74Thr)	FABP12 (I74T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2229316	NM_001105281.6(FABP12):c.217G>C (p.Glu73Gln)	FABP12 (E73Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336309	NM_001105281.6(FABP12):c.179A>G (p.Asn60Ser)	FABP12 (N60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277023	NM_001105281.6(FABP12):c.152C>A (p.Thr51Lys)	FABP12 (T51K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091539	NM_001105281.6(FABP12):c.128T>C (p.Ile43Thr)	FABP12 (I43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557936	NM_001105281.6(FABP12):c.107T>G (p.Leu36Trp)	FABP12 (L36W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263672	NM_001105281.6(FABP12):c.104G>A (p.Arg35His)	FABP12 (R35H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277024	NM_001105281.6(FABP12):c.98T>C (p.Leu33Pro)	FABP12 (L33P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277025	NM_001105281.6(FABP12):c.79G>C (p.Gly27Arg)	FABP12 (G27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382146	NM_001105281.6(FABP12):c.68A>T (p.Glu23Val)	FABP12 (E23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789297	NM_001105281.6(FABP12):c.51C>T (p.Ser17=)	FABP12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063023	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85172228)x3	CHMP4C, FABP12 +10 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 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1807951	GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3	CHMP4C, FABP12 +15 more	Copy number gain	not provided	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 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527449	GRCh37/hg19 8q21.13(chr8:82353502-82673333)	CHMP4C, FABP12 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527447	GRCh37/hg19 8q21.13(chr8:82349850-84358646)	CHMP4C, FABP12 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	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 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 1340788	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85173253)x3	CHMP4C, FABP12 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340784	GRCh37/hg19 8q21.13(chr8:81991684-82523573)x3	FABP12, FABP4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979838	GRCh37/hg19 8q21.13(chr8:81895303-82546283)x3	PAG1, FABP9 +4 more	Copy number gain	not provided	GUncertain significance
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 687123	GRCh37/hg19 8q21.13-21.2(chr8:82196649-85352499)x1	CHMP4C, FABP12 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686230	GRCh37/hg19 8q21.13(chr8:82276728-82641699)x1	FABP12, FABP4 +5 more	Copy number loss	not provided	GUncertain significance
Select item 443624	GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1	CHMP4C, FABP12 +20 more	Copy number loss	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 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 395358	GRCh37/hg19 8q21.13(chr8:82392644-82441573)x3	FABP12, FABP4	Copy number gain	See cases	GUncertain significance
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 60