ClinVar for Gene (Select 6309) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347048	NM_006918.5(SC5D):c.343+1G>T	SC5D	Single nucleotide variant (splice donor variant)	SC5D-related disorder	GUncertain significance
Select item 3316303	NM_006918.5(SC5D):c.566T>C (p.Leu189Ser)	SC5D (L189S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316302	NM_006918.5(SC5D):c.482C>T (p.Thr161Ile)	SC5D (T161I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158102	NM_006918.5(SC5D):c.631G>A (p.Gly211Ser)	SC5D (G211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158101	NM_006918.5(SC5D):c.396G>T (p.Met132Ile)	SC5D (M132I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158100	NM_006918.5(SC5D):c.295A>G (p.Ile99Val)	SC5D (I99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063220	GRCh37/hg19 11q23.3-24.1(chr11:121088658-121442189)x3	SC5D, SORL1	Copy number gain	not specified	GUncertain significance
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3009421	NM_006918.5(SC5D):c.343+16G>A	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982339	NM_006918.5(SC5D):c.306C>T (p.Tyr102=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958987	NM_006918.5(SC5D):c.343+15C>T	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899234	NM_006918.5(SC5D):c.63A>G (p.Thr21=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875108	NM_006918.5(SC5D):c.661C>T (p.Pro221Ser)	SC5D (P221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811606	NM_006918.5(SC5D):c.68del (p.Pro23fs)	SC5D (P23fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2809052	NM_006918.5(SC5D):c.444+9A>T	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684657	GRCh37/hg19 11q23.3-24.1(chr11:119688645-122861792)x3	ARHGEF12, BLID +16 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2522262	NM_006918.5(SC5D):c.106A>T (p.Ile36Phe)	SC5D (I36F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2425667	NC_000011.9:g.(?_120130513)_(121500272_?)del	ARHGEF12, GRIK4 +6 more	Deletion	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2301425	NM_006918.5(SC5D):c.640C>T (p.Arg214Cys)	SC5D (R214C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181281	NM_006918.5(SC5D):c.631G>C (p.Gly211Arg)	SC5D (G211R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177124	NM_006918.5(SC5D):c.16C>T (p.Arg6Cys)	SC5D (R6C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2142384	NM_006918.5(SC5D):c.663A>T (p.Pro221=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122710	NM_006918.5(SC5D):c.48_49insTGGATGT (p.Val17fs)	SC5D (V17fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2071013	NM_006918.5(SC5D):c.711C>G (p.Asp237Glu)	SC5D (D237E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063306	NM_006918.5(SC5D):c.211-2A>G	SC5D	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2060827	NM_006918.5(SC5D):c.98G>A (p.Ser33Asn)	SC5D (S33N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975152	NM_006918.5(SC5D):c.162T>C (p.Tyr54=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967586	NM_006918.5(SC5D):c.546A>G (p.Ile182Met)	SC5D (I182M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943675	NM_006918.5(SC5D):c.17G>C (p.Arg6Pro)	SC5D (R6P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931716	NM_006918.5(SC5D):c.829C>T (p.Arg277Cys)	SC5D (R277C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930429	NM_006918.5(SC5D):c.5A>G (p.Asp2Gly)	SC5D (D2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926554	NM_006918.5(SC5D):c.234G>C (p.Lys78Asn)	SC5D (K78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922991	NM_006918.5(SC5D):c.360C>T (p.Val120=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905415	NM_006918.5(SC5D):c.744T>C (p.Asp248=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897409	NM_006918.5(SC5D):c.599T>C (p.Leu200Ser)	SC5D (L200S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896514	NM_006918.5(SC5D):c.452A>G (p.His151Arg)	SC5D (H151R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722313	NM_006918.5(SC5D):c.608T>C (p.Ile203Thr)	SC5D (I203T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1679342	NM_006918.5(SC5D):c.268_269del (p.Leu90fs)	SC5D (L90fs)	Deletion (frameshift variant)	Lathosterolosis +2 more	GConflicting classifications of pathogenicity
Select item 1679319	NM_006918.5(SC5D):c.535C>T (p.Pro179Ser)	SC5D (P179S)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1670293	NM_006918.5(SC5D):c.459T>C (p.Pro153=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665225	NM_006918.5(SC5D):c.327A>T (p.Leu109=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655448	NM_006918.5(SC5D):c.798C>T (p.Leu266=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653920	NM_006918.5(SC5D):c.343+15C>A	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633086	NM_006918.5(SC5D):c.606T>C (p.Asn202=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627406	NM_006918.5(SC5D):c.343+17A>C	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1616130	NM_006918.5(SC5D):c.381C>G (p.Leu127=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615816	NM_006918.5(SC5D):c.211-14A>G	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1601729	NM_006918.5(SC5D):c.210+19T>A	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600602	NM_006918.5(SC5D):c.445-19G>T	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1588667	NM_006918.5(SC5D):c.641G>A (p.Arg214His)	SC5D (R214H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1545780	NM_006918.5(SC5D):c.57A>G (p.Pro19=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528387	NM_006918.5(SC5D):c.344-14G>A	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1481682	NM_006918.5(SC5D):c.323A>G (p.Asp108Gly)	SC5D (D108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1460511	NM_006918.5(SC5D):c.418G>A (p.Gly140Ser)	SC5D (G140S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433868	NM_006918.5(SC5D):c.548A>G (p.Tyr183Cys)	SC5D (Y183C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420609	NM_006918.5(SC5D):c.700A>G (p.Met234Val)	SC5D (M234V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1420238	NM_006918.5(SC5D):c.175G>A (p.Asp59Asn)	SC5D (D59N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1418599	NM_006918.5(SC5D):c.875A>G (p.Asn292Ser)	SC5D (N292S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	RNF26, TAGLN +73 more	Duplication	not provided	GUncertain significance
Select item 1394998	NM_006918.5(SC5D):c.169G>C (p.Val57Leu)	SC5D (V57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383007	NM_006918.5(SC5D):c.752G>A (p.Gly251Asp)	SC5D (G251D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369666	NM_006918.5(SC5D):c.407G>A (p.Trp136Ter)	SC5D (W136*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1369377	NM_006918.5(SC5D):c.189G>T (p.Met63Ile)	SC5D (M63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368233	NM_006918.5(SC5D):c.794C>T (p.Pro265Leu)	SC5D (P265L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364124	NM_006918.5(SC5D):c.164A>G (p.Tyr55Cys)	SC5D (Y55C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360390	NM_006918.5(SC5D):c.790G>T (p.Gly264Ter)	SC5D (G264*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1357016	NM_006918.5(SC5D):c.821_822del (p.Glu274fs)	SC5D (E274fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1351319	NM_006918.5(SC5D):c.630C>T (p.Asp210=)	SC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1333349	NM_006918.5(SC5D):c.656T>C (p.Leu219Ser)	SC5D (L219S)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1278551	NM_006918.5(SC5D):c.445-280G>A	SC5D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226518	NM_006918.5(SC5D):c.343+190_343+191del	SC5D	Deletion (intron variant)	not provided	GBenign
Select item 1219347	NM_006918.5(SC5D):c.445-128A>G	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211150	NM_006918.5(SC5D):c.343+149T>C	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200329	NM_006918.5(SC5D):c.343+245T>C	SC5D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050356	NM_006918.5(SC5D):c.22G>A (p.Ala8Thr)	SC5D (A8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 916042	NM_006918.5(SC5D):c.479C>G (p.Pro160Arg)	SC5D (P160R)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 916041	NM_006918.5(SC5D):c.630C>A (p.Asp210Glu)	SC5D (D210E)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 880036	NM_006918.5(SC5D):c.*4756A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 880035	NM_006918.5(SC5D):c.*4576T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879976	NM_006918.5(SC5D):c.*3070C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 879975	NM_006918.5(SC5D):c.*3065C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879974	NM_006918.5(SC5D):c.*3006C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879973	NM_006918.5(SC5D):c.*3003T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879972	NM_006918.5(SC5D):c.*2879G>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879926	NM_006918.5(SC5D):c.*1468C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 879925	NM_006918.5(SC5D):c.*1305A>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879883	NM_006918.5(SC5D):c.181G>A (p.Ala61Thr)	SC5D (A61T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 879882	NM_006918.5(SC5D):c.151A>G (p.Thr51Ala)	SC5D (T51A)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 879670	NM_006918.5(SC5D):c.*4469G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879669	NM_006918.5(SC5D):c.*4454G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879668	NM_006918.5(SC5D):c.*4342C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 879667	NM_006918.5(SC5D):c.*4087T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879666	NM_006918.5(SC5D):c.*3937C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance

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