ClinVar for Gene (Select 646480) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +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 2610890	NM_001080526.2(FABP9):c.137A>G (p.Asp46Gly)	FABP9 (D46G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600436	NM_001080526.2(FABP9):c.253A>G (p.Ile85Val)	FABP9 (I85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2591859	NM_001080526.2(FABP9):c.314T>C (p.Ile105Thr)	FABP9 (I105T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510202	NM_001080526.2(FABP9):c.220A>G (p.Thr74Ala)	FABP9 (T74A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379504	NM_001080526.2(FABP9):c.23C>T (p.Thr8Ile)	FABP9 (T8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335153	NM_001080526.2(FABP9):c.269G>C (p.Gly90Ala)	FABP9 (G90A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274389	NM_001080526.2(FABP9):c.88G>A (p.Ala30Thr)	FABP9 (A30T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273426	NM_001080526.2(FABP9):c.150G>A (p.Met50Ile)	FABP9 (M50I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216364	NM_001080526.2(FABP9):c.149T>C (p.Met50Thr)	FABP9 (M50T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1527446	GRCh37/hg19 8q21.13(chr8:82307254-82407985)	FABP4, FABP9 +1 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 1338848	GRCh38/hg38 8q21.13(chr8:81061071-81682394)	FABP12, FABP4 +23 more	Copy number gain	Diaphragmatic hernia	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 785256	NM_001080526.2(FABP9):c.116C>T (p.Pro39Leu)	FABP9 (P39L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781143	NM_001080526.2(FABP9):c.5T>C (p.Val2Ala)	FABP9 (V2A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 687305	GRCh37/hg19 8q21.13(chr8:82307170-82408647)x1	FABP4, FABP9 +1 more	Copy number loss	not provided	GUncertain significance
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 563436	GRCh37/hg19 8q21.13(chr8:82307254-82408725)x1	PMP2, FABP9 +1 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	PPP1R16A, PPP1R42 +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)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148749	GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3	CHMP4C, FABP12 +19 more	Copy number gain	See cases	GLikely benign
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 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 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000617, LOC130000618 +191 more	Copy number loss	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 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 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

ClinVar

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Links from Gene

Items: 58