26335[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +42 more	Copy number gain	See cases	GLikely benign
Select item 3092531	NM_152548.3(FAM81B):c.13T>C (p.Phe5Leu)	FAM81B (F5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484253	NM_152548.3(FAM81B):c.170A>G (p.Glu57Gly)	FAM81B (E57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277491	NM_152548.3(FAM81B):c.184C>T (p.Pro62Ser)	FAM81B (P62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379730	NM_152548.3(FAM81B):c.203G>A (p.Gly68Asp)	FAM81B (G68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595870	NM_152548.3(FAM81B):c.239C>T (p.Ser80Phe)	FAM81B (S80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351301	NM_152548.3(FAM81B):c.244G>A (p.Ala82Thr)	FAM81B (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590371	NM_152548.3(FAM81B):c.343G>A (p.Glu115Lys)	FAM81B (E115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277490	NM_152548.3(FAM81B):c.350G>A (p.Arg117Lys)	FAM81B (R117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368170	NM_152548.3(FAM81B):c.368G>A (p.Arg123His)	FAM81B (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655593	NM_152548.3(FAM81B):c.532A>G (p.Ile178Val)	FAM81B (I178V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2226537	NM_152548.3(FAM81B):c.551A>T (p.Gln184Leu)	FAM81B (Q184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266124	NM_152548.3(FAM81B):c.563G>A (p.Arg188Gln)	FAM81B (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221745	NM_152548.3(FAM81B):c.601G>A (p.Glu201Lys)	FAM81B (E201K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092532	NM_152548.3(FAM81B):c.668G>A (p.Ser223Asn)	FAM81B (S223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277494	NM_152548.3(FAM81B):c.716G>T (p.Arg239Leu)	FAM81B (R239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339546	NM_152548.3(FAM81B):c.773A>C (p.Asn258Thr)	FAM81B (N258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092533	NM_152548.3(FAM81B):c.777G>C (p.Leu259Phe)	FAM81B (L259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277493	NM_152548.3(FAM81B):c.782T>C (p.Met261Thr)	FAM81B (M261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277495	NM_152548.3(FAM81B):c.797T>A (p.Leu266His)	FAM81B (L266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277492	NM_152548.3(FAM81B):c.904C>T (p.Leu302Phe)	FAM81B (L302F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371484	NM_152548.3(FAM81B):c.922G>A (p.Glu308Lys)	FAM81B (E308K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092535	NM_152548.3(FAM81B):c.934A>G (p.Asn312Asp)	FAM81B (N312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621273	NM_152548.3(FAM81B):c.992A>G (p.His331Arg)	FAM81B (H331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092529	NM_152548.3(FAM81B):c.1183A>G (p.Ile395Val)	FAM81B (I395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540910	NM_152548.3(FAM81B):c.1249C>G (p.Leu417Val)	FAM81B (L417V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092530	NM_152548.3(FAM81B):c.1285G>A (p.Asp429Asn)	FAM81B (D429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616724	NM_152548.3(FAM81B):c.1293G>T (p.Glu431Asp)	FAM81B (E431D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	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 1808134	GRCh37/hg19 5q15(chr5:93524163-95017463)x3	ARSK, FAM81B +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 1341977	GRCh37/hg19 5q15(chr5:94478206-94864722)x1	FAM81B, MCTP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 980167	GRCh37/hg19 5q15(chr5:94781047-94875584)x1	TTC37, FAM81B	Copy number loss	not provided	GUncertain significance
Select item 980165	GRCh37/hg19 5q15(chr5:94425603-94862036)x3	MCTP1, FAM81B +1 more	Copy number gain	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814713	GRCh37/hg19 5q15(chr5:94715085-95251238)x3	SPATA9, ARSK +7 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
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 686679	GRCh37/hg19 5q15(chr5:92386982-94865113)x1	FAM172A, FAM81B +6 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563092	GRCh37/hg19 5q15(chr5:93907388-94842440)x3	SLF1, TTC37 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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 253708	GRCh37/hg19 5q15(chr5:94319893-95158593)x3	TTC37, SPATA9 +7 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 58