1807[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 361441	NM_001385.3(DPYS):c.*408A>G	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361442	NM_001385.3(DPYS):c.*351dup	DPYS	Duplication (3 prime UTR variant)	Dihydropyrimidinase deficiency	GLikely benign
Select item 908871	NM_001385.3(DPYS):c.*345A>T	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361443	NM_001385.3(DPYS):c.*344T>A	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GBenign
Select item 361444	NM_001385.3(DPYS):c.*205G>A	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361445	NM_001385.3(DPYS):c.*200T>C	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 361446	NM_001385.3(DPYS):c.166_169del	DPYS	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 909726	NM_001385.3(DPYS):c.*148C>T	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GBenign
Select item 361447	NM_001385.3(DPYS):c.*70A>T	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 909727	NM_001385.3(DPYS):c.*65T>C	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GBenign
Select item 909728	NM_001385.3(DPYS):c.*14G>A	DPYS	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 1961251	NM_001385.3(DPYS):c.1554C>A (p.His518Gln)	DPYS (H518Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365524	NM_001385.3(DPYS):c.1544A>C (p.Lys515Thr)	DPYS (K515T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728575	NM_001385.3(DPYS):c.1515_1518del (p.Glu507fs)	DPYS (E507fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 100132	NM_001385.3(DPYS):c.1506del (p.Arg503fs)	DPYS (R503fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2958801	NM_001385.3(DPYS):c.1491C>T (p.Val497=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356436	NM_001385.3(DPYS):c.1478A>C (p.Tyr493Ser)	DPYS (Y493S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1972847	NM_001385.3(DPYS):c.1472C>T (p.Ala491Val)	DPYS (A491V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453559	NM_001385.3(DPYS):c.1469dup (p.Ala491fs)	DPYS (A491fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 909729	NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	DPYS (R490H)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1029334	NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys)	DPYS (R490C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2177530	NM_001385.3(DPYS):c.1441C>T (p.Arg481Trp)	DPYS (R481W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599305	NM_001385.3(DPYS):c.1436G>A (p.Arg479Gln)	DPYS (R479Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 909730	NM_001385.3(DPYS):c.1433A>C (p.Gln478Pro)	DPYS (Q478P)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 1425676	NM_001385.3(DPYS):c.1424G>A (p.Arg475Gln)	DPYS (R475Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446083	NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter)	DPYS (R475*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3085650	NM_001385.3(DPYS):c.1418A>G (p.Tyr473Cys)	DPYS (Y473C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 100133	NM_001385.3(DPYS):c.1412A>G (p.Tyr471Cys)	DPYS (Y471C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 863103	NM_001385.3(DPYS):c.1393C>T (p.Arg465Ter)	DPYS (R465*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1422637	NM_001385.3(DPYS):c.1367C>T (p.Thr456Met)	DPYS (T456M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927893	NM_001385.3(DPYS):c.1363G>A (p.Val455Ile)	DPYS (V455I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426352	NM_001385.3(DPYS):c.1351G>A (p.Gly451Arg)	DPYS (G451R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 361448	NM_001385.3(DPYS):c.1350C>T (p.Ala450=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +1 more	GBenign
Select item 2017383	NM_001385.3(DPYS):c.1332C>G (p.Gly444=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100134	NM_001385.3(DPYS):c.1307T>C (p.Val436Ala)	DPYS (V436A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 185	NM_001385.3(DPYS):c.1303G>A (p.Gly435Arg)	DPYS (G435R)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 2416008	NM_001385.3(DPYS):c.1264G>A (p.Ala422Thr)	DPYS (A422T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 187	NM_001385.3(DPYS):c.1235G>T (p.Arg412Met)	DPYS (R412M)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 2341857	NM_001385.3(DPYS):c.1222C>T (p.Pro408Ser)	DPYS (P408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1453274	NM_001385.3(DPYS):c.1217G>A (p.Trp406Ter)	DPYS (W406*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3007356	NM_001385.3(DPYS):c.1188T>A (p.Ala396=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996397	NM_001385.3(DPYS):c.1170A>C (p.Pro390=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 794473	NM_001385.3(DPYS):c.1167T>C (p.Tyr389=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372797	NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)	DPYS (S379R)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1987616	NM_001385.3(DPYS):c.1093-20T>G	DPYS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100135	NM_001385.3(DPYS):c.1093-47C>A	DPYS	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100136	NM_001385.3(DPYS):c.1092+38C>T	DPYS	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100137	NM_001385.3(DPYS):c.1092+9C>T	DPYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2735195	NM_001385.3(DPYS):c.1092+5del	DPYS	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 1518152	NM_001385.3(DPYS):c.1090G>A (p.Val364Met)	DPYS (V364M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192877	NM_001385.3(DPYS):c.1089C>T (p.Gly363=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 186	NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg)	DPYS (W360R)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2609437	NM_001385.3(DPYS):c.1072G>A (p.Val358Ile)	DPYS (V358I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2887397	NM_001385.3(DPYS):c.1071C>T (p.Ser357=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691719	NM_001385.3(DPYS):c.1064G>A (p.Arg355Gln)	DPYS (R355Q)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GLikely pathogenic
Select item 910648	NM_001385.3(DPYS):c.1063C>T (p.Arg355Trp)	DPYS (R355W)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GUncertain significance
Select item 100138	NM_001385.3(DPYS):c.1062T>C (p.Asp354=)	DPYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2011871	NM_001385.3(DPYS):c.1045G>T (p.Val349Leu)	DPYS (V349L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187356	NM_001385.3(DPYS):c.1040A>G (p.Asn347Ser)	DPYS (N347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2737553	NM_001385.3(DPYS):c.1038_1039insT (p.Asn347Ter)	DPYS (N347*)	Insertion (nonsense)	not provided	GPathogenic
Select item 100139	NM_001385.3(DPYS):c.1029C>G (p.Thr343=)	DPYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1333583	NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala)	DPYS (T343A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1968803	NM_001385.3(DPYS):c.1019A>G (p.Asp340Gly)	DPYS (D340G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001764	NM_001385.3(DPYS):c.1010T>C (p.Leu337Pro)	DPYS (L337P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100140	NM_001385.3(DPYS):c.1002G>A (p.Gln334=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 184	NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg)	DPYS (Q334R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2691788	NM_001385.3(DPYS):c.983G>T (p.Cys328Phe)	DPYS (C328F)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GLikely pathogenic
Select item 2018435	NM_001385.3(DPYS):c.951-11T>C	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045415	NM_001385.3(DPYS):c.951-15T>C	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977420	NM_001385.3(DPYS):c.951-18G>A	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1117670	NM_001385.3(DPYS):c.950+20C>G	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930410	NM_001385.3(DPYS):c.950+14A>C	DPYS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968759	NM_001385.3(DPYS):c.933C>T (p.Leu311=)	DPYS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410766	NM_001385.3(DPYS):c.925G>A (p.Asp309Asn)	DPYS (D309N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1943628	NM_001385.3(DPYS):c.925G>T (p.Asp309Tyr)	DPYS (D309Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 631543	NM_001385.3(DPYS):c.905G>A (p.Arg302Gln)	DPYS (R302Q)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GLikely pathogenic
Select item 3085658	NM_001385.3(DPYS):c.898C>T (p.Pro300Ser)	DPYS (P300S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213094	NM_001385.3(DPYS):c.895C>T (p.Pro299Ser)	DPYS (P299S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1363017	NM_001385.3(DPYS):c.878C>T (p.Ala293Val)	DPYS (A293V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368088	NM_001385.3(DPYS):c.872A>G (p.His291Arg)	DPYS (H291R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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