ClinVar for Gene (Select 8822) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 133

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094701	NM_003867.4(FGF17):c.541G>A (p.Gly181Ser)	FGF17 (G170S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2964040	NM_003867.4(FGF17):c.634C>T (p.Pro212Ser)	FGF17 (P201S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902501	NM_003867.4(FGF17):c.237C>T (p.Asp79=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805297	NM_003867.4(FGF17):c.444C>T (p.Gly148=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776966	NM_003867.4(FGF17):c.359C>A (p.Pro120His)	FGF17 (P109H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707904	NM_003867.4(FGF17):c.630G>T (p.Arg210=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2658461	NM_003867.4(FGF17):c.351C>T (p.Ile117=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630280	NM_003867.4(FGF17):c.287G>A (p.Arg96Gln)	FGF17 (R85Q +1 more)	Single nucleotide variant (missense variant)	FGF17-related condition	GUncertain significance
Select item 2619505	NM_003867.4(FGF17):c.241A>G (p.Asn81Asp)	FGF17 (N70D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609701	NM_003867.4(FGF17):c.257T>C (p.Leu86Pro)	FGF17 (L86P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582100	NM_003867.4(FGF17):c.599C>A (p.Ser200Tyr)	FGF17 (S189Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2320382	NM_003867.4(FGF17):c.212G>A (p.Arg71His)	FGF17 (R60H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305549	NM_003867.4(FGF17):c.14G>A (p.Arg5His)	FGF17 (R5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287919	NM_003867.4(FGF17):c.592G>T (p.Val198Leu)	FGF17 (V198L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287833	NM_003867.4(FGF17):c.13C>T (p.Arg5Cys)	FGF17 (R5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2182303	NM_003867.4(FGF17):c.73-7C>T	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169402	NM_003867.4(FGF17):c.132C>T (p.Thr44=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091681	NM_003867.4(FGF17):c.518A>G (p.His173Arg)	FGF17 (H162R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081671	NM_003867.4(FGF17):c.222C>T (p.Ser74=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1992147	NM_003867.4(FGF17):c.357+16T>C	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974805	NM_003867.4(FGF17):c.35+15T>A	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959121	NM_003867.4(FGF17):c.73-6G>A	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954198	NM_003867.4(FGF17):c.207C>T (p.Thr69=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1600733	NM_003867.4(FGF17):c.250+7G>A	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1527423	GRCh37/hg19 8p21.3(chr8:21303187-22230498)	BMP1, DMTN +16 more	Copy number gain	not specified	GUncertain significance
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1410078	NM_003867.4(FGF17):c.614G>A (p.Arg205Gln)	FGF17 (R205Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	ADAM28, ADAM7 +55 more	Copy number gain	not provided	GPathogenic
Select item 1293466	NM_003867.4(FGF17):c.339G>A (p.Arg113=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1293289	NM_003867.4(FGF17):c.357+68T>C	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274717	NM_003867.4(FGF17):c.35+31C>G	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260686	NM_003867.4(FGF17):c.*12G>C	FGF17	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1248234	NM_003867.4(FGF17):c.72+65A>G	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244789	NC_000008.11:g.22042640T>A	FGF17	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1220197	NM_003867.4(FGF17):c.72+57C>T	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195403	NM_003867.4(FGF17):c.73-190C>T	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186919	NM_003867.4(FGF17):c.-38G>A	FGF17	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1182914	NM_003867.4(FGF17):c.73-309G>A	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 792805	NM_003867.4(FGF17):c.572A>G (p.Lys191Arg)	FGF17 (K191R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770945	NM_003867.4(FGF17):c.597C>T (p.Gly199=)	FGF17	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 748519	NM_003867.4(FGF17):c.12C>A (p.Ala4=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745035	NM_003867.4(FGF17):c.72+7G>A	FGF17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 743757	NM_003867.4(FGF17):c.345G>A (p.Lys115=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732853	NM_003867.4(FGF17):c.159C>T (p.Arg53=)	FGF17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731607	NM_003867.4(FGF17):c.251-9C>A	FGF17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730454	NM_003867.4(FGF17):c.87G>T (p.Pro29=)	FGF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 686571	GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	BIN3, BMP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 686077	GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3	BMP1, DMTN +9 more	Copy number gain	not provided	GUncertain significance
Select item 685557	GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1	BMP1, DMTN +15 more	Copy number loss	not provided	GUncertain significance
Select item 685405	GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3	BMP1, DMTN +16 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	ADAM28, ADAM7 +111 more	Copy number gain	not provided	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Intellectual disability, mild +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ADAM28, ADAM7 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM32, ADAM18 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 442157	GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4	BIN3, BMP1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 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 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC113788274, LOC114827823 +510 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +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

<< First< Prev

Page of 2