2796[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 58413	GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3	ADAM28, ADAM7 +26 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 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 1195648	NC_000008.11:g.25419218C>T	GNRH1	Single nucleotide variant	not provided	GLikely benign
Select item 1373135	NM_001083111.2(GNRH1):c.270G>T (p.Lys90Asn)	GNRH1 (K94N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 773401	NM_001083111.2(GNRH1):c.238G>C (p.Glu80Gln)	GNRH1 (E80Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 362649	NM_001083111.2(GNRH1):c.238-12T>C	GNRH1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 1204009	NM_001083111.2(GNRH1):c.238-179dup	GNRH1	Duplication (intron variant)	not provided	GLikely benign
Select item 362650	NM_001083111.2(GNRH1):c.237+8A>C	GNRH1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911829	NM_001083111.2(GNRH1):c.210T>A (p.Ser70=)	GNRH1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 2074405	NM_001083111.2(GNRH1):c.194C>T (p.Thr65Met)	GNRH1 (T69M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788272	NM_001083111.2(GNRH1):c.183C>T (p.Phe61=)	GNRH1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 12 with or without anosmia +1 more	GBenign
Select item 1378659	NM_001083111.2(GNRH1):c.178C>T (p.Arg60Cys)	GNRH1 (R64C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 362651	NM_001083111.2(GNRH1):c.177A>G (p.Gln59=)	GNRH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1344749	NM_001083111.2(GNRH1):c.143T>G (p.Ile48Arg)	GNRH1 (I48R +1 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1185918	NM_001083111.2(GNRH1):c.141+281A>G	GNRH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214136	NM_001083111.2(GNRH1):c.141+202A>G	GNRH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255191	NM_001083111.2(GNRH1):c.141+85A>G	GNRH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230178	NM_001083111.2(GNRH1):c.141+40T>G	GNRH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734969	NM_001083111.2(GNRH1):c.141G>C (p.Glu47Asp)	GNRH1 (E47D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1452079	NM_001083111.2(GNRH1):c.92G>A (p.Arg31His)	GNRH1 (R31H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2735146	NM_001083111.2(GNRH1):c.91C>T (p.Arg31Cys)	GNRH1 (R31C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 156555	NM_001083111.2(GNRH1):c.87del (p.Leu30fs)	GNRH1 (L34fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2798634	NM_001083111.2(GNRH1):c.86G>A (p.Gly29Glu)	GNRH1 (G29E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001975	NM_001083111.2(GNRH1):c.73C>G (p.His25Asp)	GNRH1 (H25D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608802	NM_001083111.2(GNRH1):c.63C>T (p.Cys21=)	GNRH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388091	NM_001083111.2(GNRH1):c.60dup (p.Cys21fs)	GNRH1 (C21fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2735147	NM_001083111.2(GNRH1):c.52G>A (p.Val18Met)	GNRH1 (V18M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 362652	NM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser)	GNRH1 (W16S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 14417	NM_001083111.2(GNRH1):c.18dup (p.Leu7fs)	GNRH1 (L11fs +1 more)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GPathogenic
Select item 362653	NM_001083111.2(GNRH1):c.-1-29T>C	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated GnRH Deficiency	GUncertain significance
Select item 362654	NM_001083111.2(GNRH1):c.-1-110A>G	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 362655	NM_001083111.2(GNRH1):c.-1-140G>A	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 362656	NM_001083111.2(GNRH1):c.-1-148G>A	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated GnRH Deficiency	GUncertain significance
Select item 362657	NM_001083111.2(GNRH1):c.-2+388T>C	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GLikely benign
Select item 362658	NM_001083111.2(GNRH1):c.-2+194C>A	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 908878	NM_001083111.2(GNRH1):c.-2+59G>T	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 362659	NM_001083111.2(GNRH1):c.-2+5A>C	GNRH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 12 with or without anosmia	GLikely benign
Select item 908879	NM_000825.3(GNRH1):c.-984C>G	GNRH1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 362660	NM_001083111.1(GNRH1):c.-169dup	GNRH1	Duplication (5 prime UTR variant)	Isolated GnRH Deficiency	GLikely benign
Select item 362661	NM_001083111.1(GNRH1):c.-169delA	GNRH1	Deletion (5 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 908880	NM_000825.3(GNRH1):c.-1198G>A	GNRH1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 909738	NM_000825.3(GNRH1):c.-1316C>T	GNRH1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 909739	NM_000825.3(GNRH1):c.-1624G>A	GNRH1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 12 with or without anosmia	GUncertain significance
Select item 1229585	NC_000008.11:g.25425076T>C	GNRH1	Single nucleotide variant	not provided	GBenign
Select item 1211454	NC_000008.11:g.25425267dup	GNRH1	Duplication	not provided	GLikely benign
Select item 1262901	NC_000008.11:g.25425333A>G	GNRH1	Single nucleotide variant	not provided	GBenign
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063021	GRCh37/hg19 8p21.2(chr8:25077825-25337736)x3	CDCA2, DOCK5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2425516	NC_000008.10:g.(?_24810323)_(25892142_?)del	CDCA2, DOCK5 +4 more	Deletion	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2423411	NC_000008.10:g.(?_24810323)_(25892142_?)dup	CDCA2, DOCK5 +4 more	Duplication	not provided	GUncertain significance

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