23092[geneid] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 146046	GRCh38/hg38 5q31.3(chr5:142643032-142900779)x3	ARHGAP26, ARHGAP26-AS1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2284093	NM_001135608.3(ARHGAP26):c.59A>G (p.Glu20Gly)	ARHGAP26 (E20G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055505	NM_001135608.3(ARHGAP26):c.154+462T>C	ARHGAP26	Single nucleotide variant (intron variant +1 more)	ARHGAP26-related disorder	GBenign
Select item 2538688	NM_001135608.3(ARHGAP26):c.173G>T (p.Arg58Leu)	ARHGAP26 (R22L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128683	NM_001135608.3(ARHGAP26):c.223G>A (p.Ala75Thr)	ARHGAP26 (A75T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059213	NM_001135608.3(ARHGAP26):c.255A>G (p.Arg85=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	ARHGAP26-related disorder	GBenign
Select item 133545	NM_001135608.3(ARHGAP26):c.307C>T (p.Arg103Trp)	ARHGAP26 (R103W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 782000	NM_001135608.3(ARHGAP26):c.327C>T (p.Ser109=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2553567	NM_001135608.3(ARHGAP26):c.328G>A (p.Glu110Lys)	ARHGAP26 (E74K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341148	NM_001135608.3(ARHGAP26):c.430A>G (p.Ile144Val)	ARHGAP26 (I108V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720303	NM_001135608.3(ARHGAP26):c.598-7A>G	ARHGAP26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3128684	NM_001135608.3(ARHGAP26):c.681G>C (p.Gln227His)	ARHGAP26 (Q191H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408878	NM_001135608.3(ARHGAP26):c.692G>A (p.Ser231Asn)	ARHGAP26 (S195N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128685	NM_001135608.3(ARHGAP26):c.932G>A (p.Gly311Glu)	ARHGAP26 (G311E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459566	NM_001135608.3(ARHGAP26):c.1015G>A (p.Glu339Lys)	ARHGAP26 (E303K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 133540	NM_001135608.3(ARHGAP26):c.1107T>C (p.Pro369=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	not specified	Gnot provided
Select item 2407180	NM_001135608.3(ARHGAP26):c.1160G>A (p.Ser387Asn)	ARHGAP26 (S351N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060469	NM_001135608.3(ARHGAP26):c.1245T>G (p.Gly415=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	ARHGAP26-related disorder	GBenign
Select item 133541	NM_001135608.3(ARHGAP26):c.1245delinsGTGGGG (p.Val416fs)	ARHGAP26 (V380fs +1 more)	Indel (frameshift variant +1 more)	not specified	Gnot provided
Select item 5052	NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser)	ARHGAP26 (N417S +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myelomonocytic leukemia	GPathogenic
Select item 3033379	NM_001135608.3(ARHGAP26):c.1285+9C>T	ARHGAP26	Single nucleotide variant (intron variant)	ARHGAP26-related disorder	GLikely benign
Select item 3128678	NM_001135608.3(ARHGAP26):c.1316A>G (p.Asp439Gly)	ARHGAP26 (D403G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155674	GRCh38/hg38 5q31.3(chr5:143058895-143577350)x1	ARHGAP26, ARHGAP26-IT1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 3049732	NM_001135608.3(ARHGAP26):c.1669A>G (p.Ile557Val)	ARHGAP26 (I521V +1 more)	Single nucleotide variant (missense variant +1 more)	ARHGAP26-related disorder	GLikely benign
Select item 2486257	NM_001135608.3(ARHGAP26):c.1687A>C (p.Asn563His)	ARHGAP26 (N563H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058677	NM_001135608.3(ARHGAP26):c.1692C>T (p.His564=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	ARHGAP26-related disorder	GLikely benign
Select item 3042217	NM_001135608.3(ARHGAP26):c.1710C>T (p.Thr570=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	ARHGAP26-related disorder	GLikely benign
Select item 3128679	NM_001135608.3(ARHGAP26):c.1711G>A (p.Val571Met)	ARHGAP26 (V535M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370627	NM_001135608.3(ARHGAP26):c.1726C>T (p.Leu576Phe)	ARHGAP26 (L540F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223176	NM_001135608.3(ARHGAP26):c.1735G>C (p.Ala579Pro)	ARHGAP26 (A579P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343800	NM_001135608.3(ARHGAP26):c.1754G>A (p.Arg585Gln)	ARHGAP26 (R549Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 133542	NM_001135608.3(ARHGAP26):c.1775A>G (p.Lys592Arg)	ARHGAP26 (K592R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 2233971	NM_001135608.3(ARHGAP26):c.1816A>G (p.Thr606Ala)	ARHGAP26 (T570A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 133543	NM_001135608.3(ARHGAP26):c.1829C>T (p.Thr610Ile)	ARHGAP26 (T610I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 3035344	NM_001135608.3(ARHGAP26):c.1838-10T>C	ARHGAP26	Single nucleotide variant (intron variant)	ARHGAP26-related disorder	GLikely benign
Select item 3128680	NM_001135608.3(ARHGAP26):c.1843C>A (p.Gln615Lys)	ARHGAP26 (Q579K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128681	NM_001135608.3(ARHGAP26):c.1919G>A (p.Ser640Asn)	ARHGAP26 (S604N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034282	NM_001135608.3(ARHGAP26):c.1947C>T (p.Asp649=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	ARHGAP26-related disorder	GLikely benign
Select item 2347655	NM_001135608.3(ARHGAP26):c.1970C>A (p.Pro657His)	ARHGAP26 (P657H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152431	GRCh38/hg38 5q31.3(chr5:143198264-143252477)x3	ARHGAP26, LOC129994904 +6 more	Copy number gain	See cases	GUncertain significance
Select item 3128682	NM_001135608.3(ARHGAP26):c.1990C>A (p.Pro664Thr)	ARHGAP26 (P664T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590079	NM_001135608.3(ARHGAP26):c.2023C>A (p.Pro675Thr)	ARHGAP26 (P675T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368728	NM_001135608.3(ARHGAP26):c.2054G>A (p.Ser685Asn)	ARHGAP26 (S685N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367076	NM_001135608.3(ARHGAP26):c.2095G>A (p.Val699Ile)	ARHGAP26 (V699I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 133546	NM_001135608.3(ARHGAP26):c.2099+69A>G	ARHGAP26 (H723R)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 2531464	NM_001135608.3(ARHGAP26):c.2099+93A>G	ARHGAP26 (N731S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 791582	NM_001135608.3(ARHGAP26):c.2163G>A (p.Ser721=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 133544	NM_001135608.3(ARHGAP26):c.2185G>A (p.Asp729Asn)	ARHGAP26 (D784N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 3059495	NM_001135608.3(ARHGAP26):c.2190C>T (p.Asn730=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	ARHGAP26-related disorder	GBenign
Select item 2520485	NM_001135608.3(ARHGAP26):c.2266G>A (p.Val756Met)	ARHGAP26 (V683M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1250331	NM_001135608.3(ARHGAP26):c.*3558C>T	ARHGAP26	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563112	GRCh37/hg19 5q31.3(chr5:142068279-142786071)x3	NR3C1, FGF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ATG12, ATOX1 +385 more	Deletion	Familial adenomatous polyposis 1 +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 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 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 395651	GRCh37/hg19 5q31.3(chr5:142176123-142241875)x3	ARHGAP26	Copy number gain	See cases	GBenign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 5054	ARHGAP26, 74-BP INS	ARHGAP26	Insertion	Juvenile myelomonocytic leukemia	GPathogenic
Select item 5053	ARHGAP26, 52-BP INS	ARHGAP26	Insertion	Juvenile myelomonocytic leukemia	GPathogenic

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Items: 70