ClinVar for Gene (Select 321) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127642	NM_001353788.2(APBA2):c.838A>G (p.Arg280Gly)	APBA2 (R280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127641	NM_001353788.2(APBA2):c.763G>C (p.Glu255Gln)	APBA2 (E255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127640	NM_001353788.2(APBA2):c.733G>A (p.Ala245Thr)	APBA2 (A245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127639	NM_001353788.2(APBA2):c.442C>T (p.His148Tyr)	APBA2 (H148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127638	NM_001353788.2(APBA2):c.1832A>G (p.Lys611Arg)	APBA2 (K315R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127637	NM_001353788.2(APBA2):c.1808G>C (p.Gly603Ala)	APBA2 (G603A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127636	NM_001353788.2(APBA2):c.1417C>A (p.Arg473Ser)	APBA2 (R165S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127635	NM_001353788.2(APBA2):c.1250C>T (p.Ala417Val)	APBA2 (A121V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127634	NM_001353788.2(APBA2):c.1240A>C (p.Lys414Gln)	APBA2 (K118Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127633	NM_001353788.2(APBA2):c.1083C>G (p.Cys361Trp)	APBA2 (C361W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3056994	NM_001353788.2(APBA2):c.1809C>T (p.Gly603=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GBenign
Select item 3055982	NM_001353788.2(APBA2):c.952-3825C>T	APBA2	Single nucleotide variant (synonymous variant +1 more)	APBA2-related disorder	GLikely benign
Select item 3052721	NM_001353788.2(APBA2):c.1224A>G (p.Gln408=)	APBA2	Single nucleotide variant (synonymous variant +1 more)	APBA2-related disorder	GLikely benign
Select item 3052642	NM_001353788.2(APBA2):c.1206C>T (p.Ser402=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3051260	NM_001353788.2(APBA2):c.864C>T (p.Pro288=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3051142	NM_001353788.2(APBA2):c.219C>T (p.Ser73=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3049085	NM_001353788.2(APBA2):c.2112C>T (p.Asn704=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3047710	NM_001353788.2(APBA2):c.1070-9C>T	APBA2	Single nucleotide variant (intron variant)	APBA2-related disorder	GLikely benign
Select item 3046633	NM_001353788.2(APBA2):c.426G>A (p.Thr142=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3046555	NM_001353788.2(APBA2):c.2223G>A (p.Thr741=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3045439	NM_001353788.2(APBA2):c.687C>T (p.Ile229=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3045230	NM_001353788.2(APBA2):c.1842C>T (p.Ile614=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3043642	NM_001353788.2(APBA2):c.*7C>T	APBA2	Single nucleotide variant (3 prime UTR variant)	APBA2-related disorder	GLikely benign
Select item 3040556	NM_001353788.2(APBA2):c.1968G>A (p.Pro656=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3040428	NM_001353788.2(APBA2):c.732C>T (p.Ser244=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3040331	NM_001353788.2(APBA2):c.486C>T (p.Asp162=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3037758	NM_001353788.2(APBA2):c.155G>A (p.Arg52Gln)	APBA2 (R52Q)	Single nucleotide variant (missense variant)	APBA2-related disorder	GBenign
Select item 3037368	NM_001353788.2(APBA2):c.300C>T (p.Tyr100=)	APBA2	Single nucleotide variant (synonymous variant)	APBA2-related disorder	GLikely benign
Select item 3036076	NM_001353788.2(APBA2):c.170C>T (p.Ala57Val)	APBA2 (A57V)	Single nucleotide variant (missense variant)	APBA2-related disorder	GLikely benign
Select item 3035360	NM_001353788.2(APBA2):c.2165A>G (p.Asn722Ser)	APBA2 (N414S +3 more)	Single nucleotide variant (missense variant)	APBA2-related disorder	GLikely benign
Select item 2688584	NM_001353788.2(APBA2):c.1826C>T (p.Ser609Leu)	APBA2 (S301L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685504	GRCh37/hg19 15q13.1-13.2(chr15:29010256-30386553)x1	APBA2, ENTREP2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684751	GRCh37/hg19 15q13.1(chr15:29307904-30212730)x3	APBA2, ENTREP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2613891	NM_001353788.2(APBA2):c.673G>A (p.Asp225Asn)	APBA2 (D225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607744	NM_001353788.2(APBA2):c.733G>T (p.Ala245Ser)	APBA2 (A245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574688	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)	APBA2, ATP10A +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2484807	NM_001353788.2(APBA2):c.2207T>C (p.Met736Thr)	APBA2 (M428T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484727	NM_001353788.2(APBA2):c.176A>G (p.Glu59Gly)	APBA2 (E59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479571	NM_001353788.2(APBA2):c.616G>T (p.Gly206Cys)	APBA2 (G206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473744	NM_001353788.2(APBA2):c.445C>T (p.Pro149Ser)	APBA2 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406715	NM_001353788.2(APBA2):c.1280C>T (p.Thr427Met)	APBA2 (T119M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406088	NM_001353788.2(APBA2):c.2168C>T (p.Ser723Leu)	APBA2 (S711L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392397	NM_001353788.2(APBA2):c.832G>A (p.Glu278Lys)	APBA2 (E278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363622	NM_001353788.2(APBA2):c.440C>T (p.Pro147Leu)	APBA2 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320419	NM_001353788.2(APBA2):c.2135C>T (p.Ala712Val)	APBA2 (A700V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304992	NM_001353788.2(APBA2):c.32G>A (p.Ser11Asn)	APBA2 (S11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288142	NM_001353788.2(APBA2):c.1162C>G (p.Pro388Ala)	APBA2 (P92A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268399	NM_001353788.2(APBA2):c.628T>G (p.Tyr210Asp)	APBA2 (Y210D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267838	NM_001353788.2(APBA2):c.676A>G (p.Ile226Val)	APBA2 (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254579	NM_001353788.2(APBA2):c.105G>C (p.Glu35Asp)	APBA2 (E35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253945	NM_001353788.2(APBA2):c.631C>T (p.Arg211Cys)	APBA2 (R211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251704	NM_001353788.2(APBA2):c.436G>A (p.Gly146Ser)	APBA2 (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234767	NM_001353788.2(APBA2):c.2140G>A (p.Glu714Lys)	APBA2 (E702K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234651	NM_001353788.2(APBA2):c.617G>A (p.Gly206Asp)	APBA2 (G206D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230020	NM_001353788.2(APBA2):c.1734C>G (p.Ile578Met)	APBA2 (I566M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228972	NM_001353788.2(APBA2):c.2080G>A (p.Val694Ile)	APBA2 (V398I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223680	NM_001353788.2(APBA2):c.1126T>C (p.Tyr376His)	APBA2 (Y80H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208415	NM_001353788.2(APBA2):c.1021A>T (p.Asn341Tyr)	APBA2 (N45Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809440	GRCh37/hg19 15q13.1-13.2(chr15:28934987-30386399)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808704	GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1	APBA2, ARHGAP11B +15 more	Copy number loss	not provided	GPathogenic
Select item 1808627	GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4	APBA2, ATP10A +32 more	Copy number gain	not provided	GPathogenic
Select item 1808478	GRCh37/hg19 15q13.1-13.2(chr15:29212947-30369944)x3	APBA2, ENTREP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808103	GRCh37/hg19 15q13.1-13.2(chr15:28928730-30386398)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808026	GRCh37/hg19 15q13.1-13.2(chr15:29211751-30386553)x3	APBA2, ENTREP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807769	GRCh37/hg19 15q13.1(chr15:28934987-29688117)x3	APBA2, ENTREP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1707424	GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368)	APBA2, ARHGAP11B +42 more	Copy number gain	See cases	GPathogenic
Select item 1703689	Single allele	APBA2, ARHGAP11B +42 more	Complex	Distal tetrasomy 15q	GPathogenic
Select item 1703672	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014)	APBA2, ATP10A +30 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703671	GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399)	ENTREP2, APBA2 +28 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1686445	NM_001353788.2(APBA2):c.229G>A (p.Val77Met)	APBA2 (V77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684563	GRCh37/hg19 15q13.1-13.3(chr15:28780392-32784132)x1	APBA2, ARHGAP11B +15 more	Copy number loss	See cases	GPathogenic
Select item 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	GPathogenic
Select item 1340902	GRCh37/hg19 15q13.1-13.2(chr15:29211750-30386398)x1	APBA2, FAM189A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1340457	GRCh37/hg19 15q13.1-13.2(chr15:28934987-30386398)x1	APBA2, ENTREP2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340050	GRCh37/hg19 15q13.1-13.2(chr15:28394664-31122895)x1	APBA2, ARHGAP11B +8 more	Copy number loss	not provided	GUncertain significance
Select item 1184308	NC_000015.10:g.28694170_30078717del	LOC129390677, LOC129390678 +14 more	Deletion	not provided	GUncertain significance
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 984434	GRCh37/hg19 15q13.1-13.2(chr15:28940039-30366124)x3	APBA2, ENTREP2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 979413	GRCh37/hg19 15q13.1-13.3(chr15:28915863-32446830)x1	FAN1, MTMR10 +14 more	Copy number loss	not provided	GPathogenic
Select item 979412	GRCh37/hg19 15q13.1-13.2(chr15:28976540-30386553)x3	ENTREP2, GOLGA8J +4 more	Copy number gain	not provided	GUncertain significance
Select item 972982	GRCh37/hg19 15q13.1-13.2(chr15:28958779-30386553)x1	GOLGA8M, NSMCE3 +4 more	Copy number loss	not provided	Gnot provided
Select item 929340	GRCh37/hg19 15q13.1-13.3(chr15:28962131-32620127)x1	APBA2, ARHGAP11B +14 more	Copy number loss	See cases	GPathogenic
Select item 816503	GRCh37/hg19 15q13.1-13.2(chr15:28962131-30737344)x1	APBA2, CHRFAM7A +5 more	Copy number loss	See cases	GUncertain significance
Select item 815694	GRCh37/hg19 15q13.1-13.3(chr15:29268247-32446830)x1	APBA2, ARHGAP11B +13 more	Copy number loss	not provided	GPathogenic
Select item 815693	GRCh37/hg19 15q13.1-13.3(chr15:28946433-32446830)x1	APBA2, FAN1 +14 more	Copy number loss	not provided	GPathogenic
Select item 815688	GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1	CHRFAM7A, GOLGA8M +38 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815686	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4	ENTREP2, APBA2 +45 more	Copy number gain	not provided	GPathogenic
Select item 815685	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4	APBA2, ATP10A +32 more	Copy number gain	not provided	GPathogenic

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