4747[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 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	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 148813	GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3	ADAM28, ADAM7 +72 more	Copy number gain	See cases	GUncertain significance
Select item 58413	GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3	ADAM28, ADAM7 +26 more	Copy number gain	See cases	GUncertain significance
Select item 58414	GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3	ADAM7, ADAM7-AS1 +5 more	Copy number gain	See cases	GUncertain significance
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 362615	NM_006158.5(NEFL):c.*1806T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362616	NM_006158.5(NEFL):c.*1744T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362617	NM_006158.5(NEFL):c.*1643G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 362618	NM_006158.5(NEFL):c.1609_1612del	NEFL	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 362619	NM_006158.5(NEFL):c.*1482C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909556	NM_006158.5(NEFL):c.*1464A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 909557	NM_006158.5(NEFL):c.*1383C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362620	NM_006158.5(NEFL):c.*1349T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362621	NM_006158.5(NEFL):c.*1344G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362623	NM_006158.5(NEFL):c.*1342A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362622	NM_006158.5(NEFL):c.1340_1342del	NEFL	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 910484	NM_006158.5(NEFL):c.*1293A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362624	NM_006158.5(NEFL):c.*1256G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GBenign
Select item 362625	NM_006158.5(NEFL):c.*1198G>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 362626	NM_006158.5(NEFL):c.*1155T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 911715	NM_006158.5(NEFL):c.*1153T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362627	NM_006158.5(NEFL):c.*1107C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 911716	NM_006158.5(NEFL):c.*1101G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362628	NM_006158.5(NEFL):c.*1100C>T	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 362629	NM_006158.5(NEFL):c.*883G>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 362630	NM_006158.5(NEFL):c.*878A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362631	NM_006158.5(NEFL):c.*856T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362632	NM_006158.5(NEFL):c.*687G>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GBenign
Select item 362633	NM_006158.5(NEFL):c.*577T>C	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362634	NM_006158.5(NEFL):c.*565del	NEFL	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 362635	NM_006158.5(NEFL):c.*486T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362636	NM_006158.5(NEFL):c.*485A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 909615	NM_006158.5(NEFL):c.*436T>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GLikely benign
Select item 362637	NM_006158.5(NEFL):c.*426G>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GBenign
Select item 362638	NM_006158.5(NEFL):c.407_408del	NEFL	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 362639	NM_006158.5(NEFL):c.*378A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 362640	NM_006158.5(NEFL):c.*244A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362641	NM_006158.5(NEFL):c.*235A>T	NEFL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362642	NM_006158.5(NEFL):c.*171C>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 362643	NM_006158.5(NEFL):c.*101A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362644	NM_006158.5(NEFL):c.*82T>A	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GBenign
Select item 362645	NM_006158.5(NEFL):c.*51A>G	NEFL	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1F	GUncertain significance
Select item 425439	NM_006158.5(NEFL):c.*6del	NEFL	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 916809	NM_006158.5(NEFL):c.*2C>A	NEFL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1038827	NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn)	NEFL (D543N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1423140	NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu)	NEFL (K540E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 843501	NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)	NEFL (A538T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 916902	NM_006158.5(NEFL):c.1611A>G (p.Gln537=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 220209	NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)	NEFL (Q537R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +5 more	GConflicting classifications of pathogenicity
Select item 1105722	NM_006158.5(NEFL):c.1608A>G (p.Glu536=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2814830	NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)	NEFL (A533S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1014315	NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro)	NEFL (A533P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1430698	NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp)	NEFL (G532D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 66682	NM_006158.5(NEFL):c.1590T>G (p.Val530=)	NEFL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 234890	NM_006158.5(NEFL):c.1588G>T (p.Val530Phe)	NEFL (V530F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 624316	NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu)	NEFL (K529E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
Select item 66681	NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)	NEFL (E527del)	Microsatellite (inframe_deletion)	not specified +1 more	GBenign
Select item 1309107	NM_006158.5(NEFL):c.1579G>A (p.Glu527Lys)	NEFL (E527K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743961	NM_006158.5(NEFL):c.1578G>A (p.Glu526=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 66680	NM_006158.5(NEFL):c.1576dup (p.Glu526fs)	NEFL (E526fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 2721350	NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)	NEFL (E526K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 1775603	NM_006158.5(NEFL):c.1576G>C (p.Glu526Gln)	NEFL (E526Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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