BCCIP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC126861096, LOC126861097 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	ABRAXAS2, ACADSB +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130004871, LOC130004872 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	LOC130004930, LOC130004931 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC110120892, LOC110120898 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	LOC130004912, LOC130004913 +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	ABRAXAS2, ACADSB +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	LOC132089760, LOC132089761 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	LOC110120928, LOC110121444 +311 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	EDRF1, EDRF1-AS1 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	ABRAXAS2, ADAM12 +257 more	Copy number loss	See cases	GPathogenic
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	ADAM12, ADAM8 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 2352278	NM_078468.3(BCCIP):c.10A>G (p.Arg4Gly)	BCCIP (R4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288932	NM_078468.3(BCCIP):c.13T>C (p.Ser5Pro)	BCCIP (S5P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2314197	NM_078468.3(BCCIP):c.32A>G (p.Glu11Gly)	BCCIP (E11G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2474783	NM_078468.3(BCCIP):c.75C>G (p.Asp25Glu)	BCCIP (D25E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344287	NM_078468.3(BCCIP):c.88A>G (p.Lys30Glu)	BCCIP (K30E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323133	NM_078468.3(BCCIP):c.173A>G (p.Asn58Ser)	BCCIP (N58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372340	NM_078468.3(BCCIP):c.452G>A (p.Arg151His)	BCCIP (R151H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268838	NM_078468.3(BCCIP):c.620A>C (p.His207Pro)	BCCIP (H207P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601663	NM_078468.3(BCCIP):c.720C>G (p.Asn240Lys)	BCCIP (N240K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469307	NM_078468.3(BCCIP):c.733G>A (p.Ala245Thr)	BCCIP (A245T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343186	NM_078468.3(BCCIP):c.734C>T (p.Ala245Val)	BCCIP (A245V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916539	NM_018180.3(DHX32):c.2222C>A (p.Thr741Asn)	BCCIP, DHX32 (T741N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818929	NM_018180.3(DHX32):c.2218T>A (p.Cys740Ser)	BCCIP, DHX32 (C740S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192944	NM_018180.3(DHX32):c.2217A>G (p.Arg739=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1430422	NM_018180.3(DHX32):c.2216_2217inv (p.Arg739Ile)	BCCIP, DHX32 (R739I)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 1363090	NM_018180.3(DHX32):c.2209G>C (p.Glu737Gln)	DHX32, BCCIP (E737Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2155331	NM_018180.3(DHX32):c.2196G>A (p.Thr732=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1407993	NM_018180.3(DHX32):c.2195C>T (p.Thr732Met)	BCCIP, DHX32 (T732M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812856	NM_018180.3(DHX32):c.2193G>T (p.Glu731Asp)	BCCIP, DHX32 (E731D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2004773	NM_018180.3(DHX32):c.2192A>T (p.Glu731Val)	BCCIP, DHX32 (E731V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074288	NM_018180.3(DHX32):c.2191G>C (p.Glu731Gln)	BCCIP, DHX32 (E731Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956477	NM_018180.3(DHX32):c.2189G>T (p.Cys730Phe)	BCCIP, DHX32 (C730F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1500230	NM_018180.3(DHX32):c.2187G>A (p.Met729Ile)	BCCIP, DHX32 (M729I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1363742	NM_018180.3(DHX32):c.2182C>G (p.Gln728Glu)	BCCIP, DHX32 (Q728E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136941	NM_018180.3(DHX32):c.2176del (p.Glu726fs)	BCCIP, DHX32 (E726fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2528045	NM_018180.3(DHX32):c.2172T>A (p.Asn724Lys)	BCCIP, DHX32 (N724K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1948335	NM_018180.3(DHX32):c.2164A>G (p.Thr722Ala)	BCCIP, DHX32 (T722A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2042157	NM_018180.3(DHX32):c.2160_2161del (p.Ser721fs)	BCCIP, DHX32 (S721fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3022967	NM_018180.3(DHX32):c.2157T>C (p.Pro719=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1896071	NM_018180.3(DHX32):c.2156_2157del (p.Pro719fs)	BCCIP, DHX32 (P719fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1967468	NM_018180.3(DHX32):c.2143G>C (p.Asp715His)	BCCIP, DHX32 (D715H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446057	NM_018180.3(DHX32):c.2143G>T (p.Asp715Tyr)	BCCIP, DHX32 (D715Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1597379	NM_018180.3(DHX32):c.2142G>C (p.Val714=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797478	NM_018180.3(DHX32):c.2141T>C (p.Val714Ala)	BCCIP, DHX32 (V714A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2867371	NM_018180.3(DHX32):c.2133G>C (p.Gln711His)	BCCIP, DHX32 (Q711H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1438657	NM_018180.3(DHX32):c.2117G>A (p.Ser706Asn)	BCCIP, DHX32 (S706N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1376479	NM_018180.3(DHX32):c.2113G>C (p.Glu705Gln)	BCCIP, DHX32 (E705Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2026885	NM_018180.3(DHX32):c.2110A>G (p.Ser704Gly)	BCCIP, DHX32 (S704G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782827	NM_018180.3(DHX32):c.2109T>C (p.Pro703=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1667850	NM_018180.3(DHX32):c.2100T>C (p.Asn700=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 784171	NM_018180.3(DHX32):c.2094C>T (p.Phe698=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2737584	NM_018180.3(DHX32):c.2093del (p.Phe698fs)	BCCIP, DHX32 (F698fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2604606	NM_018180.3(DHX32):c.2090A>G (p.Tyr697Cys)	BCCIP, DHX32 (Y697C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2702315	NM_018180.3(DHX32):c.2085A>G (p.Gln695=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2178505	NM_018180.3(DHX32):c.2064-7_2064-4del	BCCIP, DHX32	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2191141	NM_018180.3(DHX32):c.2064-8A>G	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2103168	NM_018180.3(DHX32):c.2063+17A>G	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999643	NM_018180.3(DHX32):c.2063+12G>A	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957949	NM_018180.3(DHX32):c.2063+6T>C	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2016226	NM_018180.3(DHX32):c.2037G>A (p.Arg679=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1636452	NM_018180.3(DHX32):c.2025C>T (p.Asn675=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2073977	NM_018180.3(DHX32):c.2018C>T (p.Ser673Phe)	BCCIP, DHX32 (S673F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1503317	NM_018180.3(DHX32):c.2007A>T (p.Lys669Asn)	BCCIP, DHX32 (K669N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1594989	NM_018180.3(DHX32):c.1998C>G (p.Leu666=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2200766	NM_018180.3(DHX32):c.1987G>C (p.Glu663Gln)	BCCIP, DHX32 (E663Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2492295	NM_018180.3(DHX32):c.1985C>T (p.Pro662Leu)	BCCIP, DHX32 (P662L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2034614	NM_018180.3(DHX32):c.1979del (p.Lys660fs)	BCCIP, DHX32 (K660fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1935919	NM_018180.3(DHX32):c.1979A>T (p.Lys660Met)	BCCIP, DHX32 (K660M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511424	NM_018180.3(DHX32):c.1958C>G (p.Ser653Cys)	BCCIP, DHX32 (S653C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2189059	NM_018180.3(DHX32):c.1954_1955del (p.Leu652fs)	DHX32, BCCIP (L652fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1376455	NM_018180.3(DHX32):c.1955T>C (p.Leu652Pro)	DHX32, BCCIP (L652P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2477968	NM_018180.3(DHX32):c.1939G>A (p.Ala647Thr)	BCCIP, DHX32 (A647T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1924219	NM_018180.3(DHX32):c.1936G>A (p.Val646Ile)	BCCIP, DHX32 (V646I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1424597	NM_018180.3(DHX32):c.1931A>C (p.Lys644Thr)	BCCIP, DHX32 (K644T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172036	NM_018180.3(DHX32):c.1927C>T (p.His643Tyr)	BCCIP, DHX32 (H643Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953380	NM_018180.3(DHX32):c.1921C>G (p.Leu641Val)	BCCIP, DHX32 (L641V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020197	NM_018180.3(DHX32):c.1910A>G (p.Asn637Ser)	BCCIP, DHX32 (N637S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917400	NM_018180.3(DHX32):c.1891G>T (p.Asp631Tyr)	BCCIP, DHX32 (D631Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817409	NM_018180.3(DHX32):c.1890G>C (p.Arg630=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927196	NM_018180.3(DHX32):c.1889G>A (p.Arg630Gln)	BCCIP, DHX32 (R630Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1447312	NM_018180.3(DHX32):c.1888C>T (p.Arg630Trp)	DHX32, BCCIP (R630W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069617	NM_018180.3(DHX32):c.1882-7C>T	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001780	NM_018180.3(DHX32):c.1882-9G>A	DHX32, BCCIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901873	NM_018180.3(DHX32):c.1882-21_1882-18del	BCCIP, DHX32	Deletion (intron variant)	not provided	GLikely benign
Select item 2099686	NM_018180.3(DHX32):c.1882-20T>C	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign

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