4623[HGNC] - 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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 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 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 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 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	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 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 151191	GRCh38/hg38 8p12(chr8:30368765-36421541)x3	DUSP26, FUT10 +85 more	Copy number gain	See cases	GUncertain significance
Select item 1049599	NC_000008.11:g.30673639_30673644del	GSR	Deletion	not provided	GUncertain significance
Select item 694660	NM_000637.5(GSR):c.1286-229_*499del	GSR	Deletion (splice acceptor variant +1 more)	Hemolytic anemia due to glutathione reductase deficiency	GPathogenic
Select item 811066	NM_000637.5(GSR):c.1565G>A (p.Arg522His)	GSR (R440H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432316	NM_000637.5(GSR):c.1525G>A (p.Ala509Thr)	GSR (A427T +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 3282994	NM_000637.5(GSR):c.1507G>C (p.Asp503His)	GSR (D450H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771424	NM_000637.5(GSR):c.1500G>A (p.Thr500=)	GSR	Single nucleotide variant (synonymous variant)	GSR-related disorder +2 more	GBenign/Likely benign
Select item 3102934	NM_000637.5(GSR):c.1493G>T (p.Gly498Val)	GSR (G469V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693974	NM_000637.5(GSR):c.1490T>C (p.Met497Thr)	GSR (M415T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432323	NM_000637.5(GSR):c.1486A>C (p.Lys496Gln)	GSR (K414Q +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 1286961	NM_000637.5(GSR):c.1420-39_1420-38del	GSR	Deletion (intron variant)	not provided	GBenign
Select item 1271483	NM_000637.5(GSR):c.1420-38del	GSR	Deletion (intron variant)	not provided	GBenign
Select item 1273497	NM_000637.5(GSR):c.1420-146G>T	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1913855	NM_000637.5(GSR):c.1419+20A>G	GSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3102933	NM_000637.5(GSR):c.1393A>G (p.Met465Val)	GSR (M383V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689171	NM_000637.5(GSR):c.1358C>T (p.Ala453Val)	GSR (A371V +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 745645	NM_000637.5(GSR):c.1356C>T (p.His452=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163021	NM_000637.5(GSR):c.1349T>G (p.Met450Arg)	GSR (M368R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994024	NM_000637.5(GSR):c.1334C>T (p.Thr445Met)	GSR (T363M +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 726081	NM_000637.5(GSR):c.1317T>C (p.Asn439=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2176375	NM_000637.5(GSR):c.1294A>G (p.Ile432Val)	GSR (I403V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693975	NM_000637.5(GSR):c.1285+25A>T	GSR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 796268	NM_000637.5(GSR):c.1285+7A>G	GSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2166157	NM_000637.5(GSR):c.1281G>A (p.Thr427=)	GSR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2959412	NM_000637.5(GSR):c.1267A>G (p.Thr423Ala)	GSR (T341A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811070	NM_000637.5(GSR):c.1261A>G (p.Ile421Val)	GSR (I339V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432317	NM_000637.5(GSR):c.1256C>T (p.Pro419Leu)	GSR (P337L +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432312	NM_000637.5(GSR):c.1196A>C (p.Glu399Ala)	GSR (E317A +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432320	NM_000637.5(GSR):c.1171C>T (p.Arg391Ter)	GSR (R309* +3 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 1272685	NM_000637.5(GSR):c.1154-45A>C	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231439	NM_000637.5(GSR):c.1153+320_1153+321dup	GSR	Duplication (intron variant)	not provided	GBenign
Select item 1228471	NM_000637.5(GSR):c.1153+320dup	GSR	Duplication (intron variant)	not provided	GBenign
Select item 694662	NM_000637.5(GSR):c.1121G>C (p.Gly374Ala)	GSR (G292A +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GPathogenic
Select item 745646	NM_000637.5(GSR):c.1116A>C (p.Ala372=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542602	NM_000637.5(GSR):c.1106G>A (p.Gly369Asp)	GSR (G316D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057203	NM_000637.5(GSR):c.1098C>T (p.Asn366=)	GSR	Single nucleotide variant (synonymous variant)	GSR-related disorder +1 more	GBenign/Likely benign
Select item 2432322	NM_000637.5(GSR):c.1081G>A (p.Glu361Lys)	GSR (E279K +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2072994	NM_000637.5(GSR):c.1080C>T (p.Asp360=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972150	NM_000637.5(GSR):c.1074C>T (p.Ile358=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769741	NM_000637.5(GSR):c.1069A>G (p.Ile357Val)	GSR (I328V +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +2 more	GBenign/Likely benign
Select item 740252	NM_000637.5(GSR):c.1062G>A (p.Lys354=)	GSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689168	NM_000637.5(GSR):c.1060A>G (p.Lys354Glu)	GSR (K272E +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2689169	NM_000637.5(GSR):c.1054G>A (p.Asp352Asn)	GSR (D270N +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 1264259	NM_000637.5(GSR):c.1042-199G>A	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262725	NM_000637.5(GSR):c.1042-219C>T	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252531	NM_000637.5(GSR):c.1041+42A>G	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3055359	NM_000637.5(GSR):c.1041+10C>A	GSR	Single nucleotide variant (intron variant)	GSR-related disorder	GLikely benign
Select item 2432313	NM_000637.5(GSR):c.1023C>G (p.Asp341Glu)	GSR (D312E +1 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2459269	NM_000637.5(GSR):c.998T>C (p.Ile333Thr)	GSR (I304T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 694661	NM_000637.5(GSR):c.993G>A (p.Trp331Ter)	GSR (W302* +1 more)	Single nucleotide variant (nonsense +1 more)	Hemolytic anemia due to glutathione reductase deficiency	GPathogenic
Select item 618148	NM_000637.5(GSR):c.989T>C (p.Leu330Pro)	GSR (L330P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2477766	NM_000637.5(GSR):c.971C>T (p.Pro324Leu)	GSR (P295L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282993	NM_000637.5(GSR):c.962C>T (p.Thr321Ile)	GSR (T321I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2957344	NM_000637.5(GSR):c.954A>C (p.Pro318=)	GSR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 810271	NM_000637.5(GSR):c.954A>T (p.Pro318=)	GSR	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2683005	NM_000637.5(GSR):c.943G>A (p.Gly315Ser)	GSR (G286S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1163022	NM_000637.5(GSR):c.908C>T (p.Ser303Leu)	GSR (S274L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1286141	NM_000637.5(GSR):c.883-130C>G	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 795899	NM_000637.5(GSR):c.882+6G>A	GSR	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3102938	NM_000637.5(GSR):c.878C>T (p.Ser293Phe)	GSR (S293F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 811067	NM_000637.5(GSR):c.878C>G (p.Ser293Cys)	GSR (S293C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 618149	NM_000637.5(GSR):c.866T>C (p.Val289Ala)	GSR (V289A)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1330556	NM_000637.5(GSR):c.859G>A (p.Val287Met)	GSR (V287M)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GUncertain significance
Select item 1946181	NM_000637.5(GSR):c.855T>C (p.Ala285=)	GSR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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