24452[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	EPB41L4A-AS1, EPB41L4A-DT +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +342 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	LOC126807477, LOC126807478 +180 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	LOC285638, MAN2A1 +134 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	LOC129994315, LOC129994316 +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	AP3S1, APC +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	ADAMTS19, ADAMTS19-AS1 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, APC +119 more	Copy number loss	See cases	GPathogenic
Select item 2337802	NM_152624.6(DCP2):c.25C>T (p.Pro9Ser)	DCP2 (P9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 994098	NM_152624.6(DCP2):c.88_89del (p.Asp30fs)	DCP2 (D30fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2531184	NM_152624.6(DCP2):c.157A>T (p.Asn53Tyr)	DCP2 (N53Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396568	NM_152624.6(DCP2):c.221C>T (p.Pro74Leu)	DCP2 (P74L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466197	NM_152624.6(DCP2):c.236A>C (p.Gln79Pro)	DCP2 (Q79P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593352	NM_152624.6(DCP2):c.671A>G (p.Lys224Arg)	DCP2 (K224R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372778	NM_152624.6(DCP2):c.776C>T (p.Thr259Met)	DCP2 (T259M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379447	NM_152624.6(DCP2):c.1027A>C (p.Lys343Gln)	DCP2 (K343Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2464039	NM_152624.6(DCP2):c.1081C>G (p.Gln361Glu)	DCP2 (Q326E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396006	NM_152624.6(DCP2):c.1142T>C (p.Leu381Pro)	DCP2 (L381P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570253	NM_152624.6(DCP2):c.1165G>A (p.Val389Met)	DCP2 (V389M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062875	GRCh37/hg19 5q22.2(chr5:111804505-112842185)x3	APC, DCP2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2684427	GRCh37/hg19 5q22.2(chr5:112320258-112548187)x3	DCP2, MCC	Copy number gain	not provided	GUncertain significance
Select item 2684426	GRCh37/hg19 5q22.2-22.3(chr5:111971571-113400877)x3	APC, DCP2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808551	GRCh37/hg19 5q22.2(chr5:112264526-112437275)x1	DCP2, MCC	Copy number loss	not provided	GUncertain significance
Select item 1527187	GRCh37/hg19 5q22.2-22.3(chr5:111676467-113755797)	TSSK1B, YTHDC2 +7 more	Copy number loss	not specified	GPathogenic
Select item 1527186	GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	AP3S1, APC +21 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 1406828	NC_000005.9:g.(?_112173731)_(112343239_?)del	APC, DCP2 +2 more	Deletion	Familial adenomatous polyposis 1	GPathogenic
Select item 1340716	GRCh37/hg19 5q22.2(chr5:112312052-112406504)x1	DCP2, MCC	Copy number loss	not provided	GUncertain significance
Select item 814727	GRCh37/hg19 5q22.2-22.3(chr5:112115007-113452981)x3	APC, DCP2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563101	GRCh37/hg19 5q22.2(chr5:112246243-112318928)x1	REEP5, DCP2	Copy number loss	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	AP3S1, APC +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 48