22836[Gene ID] - 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 2253658	NM_014899.4(RHOBTB3):c.112G>A (p.Asp38Asn)	RHOBTB3, SPATA9 (D38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154067	NM_014899.4(RHOBTB3):c.234A>G (p.Ile78Met)	RHOBTB3 (I78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154069	NM_014899.4(RHOBTB3):c.275G>A (p.Gly92Asp)	RHOBTB3 (G92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154070	NM_014899.4(RHOBTB3):c.356T>C (p.Ile119Thr)	RHOBTB3 (I119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314217	NM_014899.4(RHOBTB3):c.364G>A (p.Ala122Thr)	RHOBTB3 (A122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154071	NM_014899.4(RHOBTB3):c.458G>A (p.Gly153Glu)	RHOBTB3 (G153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370859	NM_014899.4(RHOBTB3):c.460A>C (p.Ser154Arg)	RHOBTB3 (S154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314218	NM_014899.4(RHOBTB3):c.596T>C (p.Leu199Ser)	RHOBTB3 (L199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314216	NM_014899.4(RHOBTB3):c.632A>G (p.Lys211Arg)	RHOBTB3 (K211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154072	NM_014899.4(RHOBTB3):c.877A>G (p.Ile293Val)	RHOBTB3 (I293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488814	NM_014899.4(RHOBTB3):c.879T>G (p.Ile293Met)	RHOBTB3 (I293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154073	NM_014899.4(RHOBTB3):c.932A>C (p.Asp311Ala)	RHOBTB3 (D311A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154058	NM_014899.4(RHOBTB3):c.1027A>C (p.Ile343Leu)	RHOBTB3 (I343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294982	NM_014899.4(RHOBTB3):c.1106G>C (p.Gly369Ala)	RHOBTB3 (G369A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314212	NM_014899.4(RHOBTB3):c.1217A>G (p.Tyr406Cys)	RHOBTB3 (Y406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218885	NM_014899.4(RHOBTB3):c.1273G>A (p.Glu425Lys)	RHOBTB3 (E425K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154060	NM_014899.4(RHOBTB3):c.1406A>G (p.Glu469Gly)	RHOBTB3 (E469G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314213	NM_014899.4(RHOBTB3):c.1438A>G (p.Thr480Ala)	RHOBTB3 (T480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154061	NM_014899.4(RHOBTB3):c.1465T>C (p.Phe489Leu)	RHOBTB3 (F489L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314214	NM_014899.4(RHOBTB3):c.1540A>T (p.Ile514Phe)	RHOBTB3 (I514F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154062	NM_014899.4(RHOBTB3):c.1601T>C (p.Val534Ala)	RHOBTB3 (V534A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154063	NM_014899.4(RHOBTB3):c.1730G>A (p.Arg577His)	RHOBTB3 (R577H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154064	NM_014899.4(RHOBTB3):c.1760C>T (p.Ser587Leu)	RHOBTB3 (S587L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154065	NM_014899.4(RHOBTB3):c.1769A>G (p.Tyr590Cys)	RHOBTB3 (Y590C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154066	NM_014899.4(RHOBTB3):c.1810C>T (p.Arg604Trp)	RHOBTB3 (R604W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614492	NM_014899.4(RHOBTB3):c.1825T>A (p.Leu609Ile)	RHOBTB3 (L609I)	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 2685164	GRCh37/hg19 5q15(chr5:95019029-95937906)x1	ELL2, GLRX +2 more	Copy number loss	not provided	GUncertain significance
Select item 2425958	NC_000005.9:g.(?_94800311)_(96107383_?)del	ARSK, CAST +9 more	Deletion	not provided	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
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 814714	GRCh37/hg19 5q15(chr5:94952542-95069744)x1	RFESD, SPATA9 +2 more	Copy number loss	not provided	GUncertain significance
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 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563093	GRCh37/hg19 5q15(chr5:94881523-95294150)x3	SPATA9, GLRX +6 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	CCNI2, FAM13B +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443035	GRCh37/hg19 5q15(chr5:95028385-95581195)x3	ELL2, GLRX +1 more	Copy number gain	See cases	GUncertain significance
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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 253708	GRCh37/hg19 5q15(chr5:94319893-95158593)x3	TTC37, SPATA9 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 58