30599[HGNC] - ClinVar

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Items: 59

	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 148749	GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3	CHMP4C, FABP12 +19 more	Copy number gain	See cases	GLikely benign
Select item 3144461	NM_152284.4(CHMP4C):c.55G>C (p.Ala19Pro)	CHMP4C (A19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383592	NM_152284.4(CHMP4C):c.118C>G (p.Gln40Glu)	CHMP4C (Q40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364345	NM_152284.4(CHMP4C):c.172G>C (p.Gly58Arg)	CHMP4C (G58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342845	NM_152284.4(CHMP4C):c.193G>A (p.Ala65Thr)	CHMP4C (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267070	NM_152284.4(CHMP4C):c.222G>T (p.Arg74Ser)	CHMP4C (R74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144457	NM_152284.4(CHMP4C):c.306C>A (p.Asn102Lys)	CHMP4C (N102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144458	NM_152284.4(CHMP4C):c.328G>A (p.Gly110Ser)	CHMP4C (G110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319815	NM_152284.4(CHMP4C):c.371A>G (p.Asp124Gly)	CHMP4C (D124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224658	NM_152284.4(CHMP4C):c.484G>A (p.Asp162Asn)	CHMP4C (D162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144459	NM_152284.4(CHMP4C):c.536A>G (p.Lys179Arg)	CHMP4C (K179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508910	NM_152284.4(CHMP4C):c.548T>C (p.Ile183Thr)	CHMP4C (I183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370039	NM_152284.4(CHMP4C):c.551G>A (p.Arg184His)	CHMP4C (R184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468786	NM_152284.4(CHMP4C):c.626G>A (p.Arg209Gln)	CHMP4C (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214117	NM_152284.4(CHMP4C):c.632G>A (p.Arg211Gln)	CHMP4C (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225623	NM_152284.4(CHMP4C):c.694G>A (p.Ala232Thr)	CHMP4C (A232T)	Single nucleotide variant (missense variant)	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 3063009	GRCh37/hg19 8q21.13(chr8:82540245-82662642)x1	CHMP4C, IMPA1 +2 more	Copy number loss	not specified	GUncertain significance
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 1807622	GRCh37/hg19 8q21.13-21.2(chr8:82653644-84806201)x1	CHMP4C, SNX16	Copy number loss	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 1527450	GRCh37/hg19 8q21.13-21.2(chr8:82652413-84809475)	CHMP4C, SNX16	Copy number loss	not specified	GUncertain significance
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 815139	GRCh37/hg19 8q21.13(chr8:82581743-82652385)x1	ZFAND1, CHMP4C +2 more	Copy number loss	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 563473	GRCh37/hg19 8q21.13(chr8:82603894-82862754)x3	SLC10A5, ZFAND1 +2 more	Copy number gain	not provided	GLikely benign
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 442124	GRCh37/hg19 8q21.13(chr8:82534933-83229899)x3	CHMP4C, IMPA1 +3 more	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: 59