55212[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 148260	GRCh38/hg38 4q27(chr4:121164018-122098913)x1	ANXA5, BBS7 +26 more	Copy number loss	See cases	GUncertain significance
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57894	GRCh38/hg38 4q27(chr4:121636147-122327601)x3	LOC126807144, LOC126807145 +22 more	Copy number gain	See cases	GUncertain significance
Select item 347463	NM_176824.3(BBS7):c.*1526C>T	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 899852	NM_176824.3(BBS7):c.*1361A>T	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347464	NM_176824.3(BBS7):c.*1324G>A	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347465	NM_176824.3(BBS7):c.*1286G>A	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7 +1 more	GBenign
Select item 347466	NM_176824.3(BBS7):c.1209_1211del	BBS7	Deletion (3 prime UTR variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 347467	NM_176824.3(BBS7):c.*1202G>A	BBS7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 899853	NM_176824.3(BBS7):c.*1161A>G	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347468	NM_176824.3(BBS7):c.*1139T>C	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347469	NM_176824.3(BBS7):c.*996T>C	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347470	NM_176824.3(BBS7):c.*932T>G	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GBenign
Select item 900969	NM_176824.3(BBS7):c.*828A>G	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347471	NM_176824.3(BBS7):c.*729del	BBS7	Deletion (3 prime UTR variant)	Bardet-Biedl syndrome	GBenign
Select item 900970	NM_176824.3(BBS7):c.*724C>T	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347472	NM_176824.3(BBS7):c.*709G>C	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347473	NM_176824.3(BBS7):c.*690T>C	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7 +1 more	GBenign
Select item 347474	NM_176824.3(BBS7):c.*605G>A	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347475	NM_176824.3(BBS7):c.*513C>T	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347476	NM_176824.3(BBS7):c.*419T>A	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7 +1 more	GBenign
Select item 901583	NM_176824.3(BBS7):c.*353G>A	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347477	NM_176824.3(BBS7):c.*304A>C	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347478	NM_176824.3(BBS7):c.*273T>C	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 347479	NM_176824.3(BBS7):c.*250T>G	BBS7	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 7 +1 more	GBenign
Select item 1059695	NM_176824.3(BBS7):c.2146T>C (p.Ter716Arg)	BBS7	Single nucleotide variant (stop lost)	Bardet-Biedl syndrome	GUncertain significance
Select item 1132417	NM_176824.3(BBS7):c.2142A>G (p.Ala714=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1806257	NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)	BBS7 (D713N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 1150031	NM_176824.3(BBS7):c.2136C>T (p.Phe712=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 7 +1 more	GLikely benign
Select item 2699449	NM_176824.3(BBS7):c.2133C>T (p.Phe711=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1468650	NM_176824.3(BBS7):c.2108A>G (p.Tyr703Cys)	BBS7 (Y703C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1493448	NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)	BBS7 (S702R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1923092	NM_176824.3(BBS7):c.2105G>T (p.Ser702Ile)	BBS7 (S702I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 3348415	NM_176824.3(BBS7):c.2104A>G (p.Ser702Gly)	BBS7 (S702G)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 3351118	NM_176824.3(BBS7):c.2086C>G (p.Leu696Val)	BBS7 (L696V)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 2076722	NM_176824.3(BBS7):c.2083C>A (p.Leu695Ile)	BBS7 (L695I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1127164	NM_176824.3(BBS7):c.2082C>A (p.Pro694=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1514844	NM_176824.3(BBS7):c.2074A>G (p.Lys692Glu)	BBS7 (K692E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1565455	NM_176824.3(BBS7):c.2073T>C (p.Thr691=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2993051	NM_176824.3(BBS7):c.2067A>G (p.Val689=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 188236	NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)	BBS7 (N688S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +3 more	GUncertain significance
Select item 1472386	NM_176824.3(BBS7):c.2062A>T (p.Asn688Tyr)	BBS7 (N688Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2062143	NM_176824.3(BBS7):c.2057G>A (p.Gly686Asp)	BBS7 (G686D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 3260547	NM_176824.3(BBS7):c.2056G>A (p.Gly686Ser)	BBS7 (G686S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1956416	NM_176824.3(BBS7):c.2046T>G (p.Phe682Leu)	BBS7 (F682L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1160157	NM_176824.3(BBS7):c.2046T>C (p.Phe682=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2100437	NM_176824.3(BBS7):c.2042A>C (p.Lys681Thr)	BBS7 (K681T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1361921	NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)	BBS7 (K681I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 2090377	NM_176824.3(BBS7):c.2035A>G (p.Ile679Val)	BBS7 (I679V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1578985	NM_176824.3(BBS7):c.2034C>T (p.Phe678=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 987191	NM_176824.3(BBS7):c.2023_2029del (p.Thr675fs)	BBS7 (T675fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3349598	NM_176824.3(BBS7):c.2017A>G (p.Met673Val)	BBS7 (M673V)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 1392124	NM_176824.3(BBS7):c.2017A>T (p.Met673Leu)	BBS7 (M673L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2915413	NM_176824.3(BBS7):c.2016C>T (p.Gly672=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2183764	NM_176824.3(BBS7):c.2015G>T (p.Gly672Val)	BBS7 (G672V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 3356634	NM_176824.3(BBS7):c.2015-4A>G	BBS7	Single nucleotide variant (intron variant)	BBS7-related disorder	GLikely benign
Select item 3357433	NM_176824.3(BBS7):c.2015-5T>C	BBS7	Single nucleotide variant (intron variant)	BBS7-related disorder	GLikely benign
Select item 2806375	NM_176824.3(BBS7):c.2015-6T>C	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1640069	NM_176824.3(BBS7):c.2015-17A>T	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1269263	NM_176824.3(BBS7):c.2014+305T>G	BBS7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2903359	NM_176824.3(BBS7):c.2014+9A>G	BBS7	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1001617	NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys)	BBS7 (Y671C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 3349284	NM_176824.3(BBS7):c.2010C>G (p.Leu670=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder	GUncertain significance
Select item 3010288	NM_176824.3(BBS7):c.2010C>T (p.Leu670=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2126730	NM_176824.3(BBS7):c.2007A>T (p.Arg669Ser)	BBS7 (R669S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 3345320	NM_176824.3(BBS7):c.1997A>G (p.His666Arg)	BBS7 (H666R)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 969175	NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)	BBS7 (H666Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 2875592	NM_176824.3(BBS7):c.1995A>C (p.Ala665=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1548957	NM_176824.3(BBS7):c.1992T>C (p.Pro664=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 938988	NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)	BBS7 (P664L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1634726	NM_176824.3(BBS7):c.1989A>G (p.Gln663=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 216137	NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs)	BBS7 (K662fs)	Indel (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3348871	NM_176824.3(BBS7):c.1981A>G (p.Lys661Glu)	BBS7 (K661E)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 2573210	NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys)	BBS7 (Y660C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 2092676	NM_176824.3(BBS7):c.1978T>C (p.Tyr660His)	BBS7 (Y660H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2191647	NM_176824.3(BBS7):c.1975G>C (p.Glu659Gln)	BBS7 (E659Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1013678	NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys)	BBS7 (E658K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1519886	NM_176824.3(BBS7):c.1970A>G (p.Gln657Arg)	BBS7 (Q657R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2916777	NM_176824.3(BBS7):c.1968A>G (p.Leu656=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 162088	NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)	BBS7 (L656fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 7 +2 more	GPathogenic
Select item 2704645	NM_176824.3(BBS7):c.1966C>T (p.Leu656=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2829035	NM_176824.3(BBS7):c.1965C>T (p.His655=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1427622	NM_176824.3(BBS7):c.1960G>C (p.Asp654His)	BBS7 (D654H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2692761	NM_176824.3(BBS7):c.1953A>G (p.Glu651=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 798854	NM_176824.3(BBS7):c.1950A>G (p.Leu650=)	BBS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834528	NM_176824.3(BBS7):c.1948C>T (p.Leu650=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2680061	NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)	BBS7	Microsatellite (nonsense +1 more)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 347480	NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly)	BBS7 (C648G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 2502261	NM_176824.3(BBS7):c.1940A>G (p.His647Arg)	BBS7 (H647R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 1939765	NM_176824.3(BBS7):c.1923T>A (p.Phe641Leu)	BBS7 (F641L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1089033	NM_176824.3(BBS7):c.1917G>A (p.Thr639=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1489640	NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)	BBS7 (T639M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 2720585	NM_176824.3(BBS7):c.1908G>A (p.Glu636=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2630882	NM_176824.3(BBS7):c.1904A>G (p.His635Arg)	BBS7 (H635R)	Single nucleotide variant (missense variant)	BBS7-related disorder	GUncertain significance
Select item 1044275	NM_176824.3(BBS7):c.1904A>T (p.His635Leu)	BBS7 (H635L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2819870	NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)	BBS7 (Q633*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic

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