ClinVar for Gene (Select 2264) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 122

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 3094814	NM_213647.3(FGFR4):c.767C>T (p.Pro256Leu)	FGFR4 (P256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094813	NM_213647.3(FGFR4):c.409T>C (p.Ser137Pro)	FGFR4 (S137P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094812	NM_213647.3(FGFR4):c.292C>T (p.Arg98Cys)	FGFR4 (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094811	NM_213647.3(FGFR4):c.260A>T (p.Glu87Val)	FGFR4 (E87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094810	NM_213647.3(FGFR4):c.2154G>A (p.Leu718=)	FGFR4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3094809	NM_213647.3(FGFR4):c.2108G>A (p.Arg703Gln)	FGFR4 (R703Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094808	NM_213647.3(FGFR4):c.1733G>A (p.Arg578Gln)	FGFR4 (R510Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094807	NM_213647.3(FGFR4):c.1445T>C (p.Val482Ala)	FGFR4 (V414A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094806	NM_213647.3(FGFR4):c.121C>A (p.Gln41Lys)	FGFR4 (Q41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094805	NM_213647.3(FGFR4):c.1192C>T (p.Arg398Trp)	FGFR4 (R398W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062859	GRCh37/hg19 5q35.2(chr5:175822822-176520008)x1	CDHR2, CLTB +11 more	Copy number loss	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3061016	NM_213647.3(FGFR4):c.162T>G (p.Arg54=)	FGFR4	Single nucleotide variant (synonymous variant)	FGFR4-related disorder	GBenign
Select item 3060830	NM_213647.3(FGFR4):c.2016-8A>G	FGFR4	Single nucleotide variant (intron variant)	FGFR4-related disorder	GBenign
Select item 3060679	NM_213647.3(FGFR4):c.702C>T (p.Arg234=)	FGFR4	Single nucleotide variant (synonymous variant)	FGFR4-related disorder	GBenign
Select item 3059127	NM_213647.3(FGFR4):c.1821+4C>T	FGFR4	Single nucleotide variant (intron variant)	FGFR4-related disorder	GBenign
Select item 3056912	NM_213647.3(FGFR4):c.1210G>C (p.Ala404Pro)	FGFR4 (A404P)	Single nucleotide variant (missense variant +1 more)	FGFR4-related disorder	GLikely benign
Select item 3056656	NM_213647.3(FGFR4):c.738G>A (p.Pro246=)	FGFR4	Single nucleotide variant (synonymous variant)	FGFR4-related disorder	GLikely benign
Select item 3053826	NM_213647.3(FGFR4):c.1206G>A (p.Pro402=)	FGFR4	Single nucleotide variant (synonymous variant +1 more)	FGFR4-related disorder	GLikely benign
Select item 3050770	NM_213647.3(FGFR4):c.2118T>C (p.His706=)	FGFR4	Single nucleotide variant (synonymous variant)	FGFR4-related disorder	GLikely benign
Select item 3048070	NM_213647.3(FGFR4):c.535A>G (p.Thr179Ala)	FGFR4 (T179A)	Single nucleotide variant (missense variant)	FGFR4-related disorder	GBenign
Select item 3046219	NM_213647.3(FGFR4):c.891C>T (p.Asp297=)	FGFR4	Single nucleotide variant (synonymous variant)	FGFR4-related disorder	GLikely benign
Select item 3039021	NM_213647.3(FGFR4):c.1215T>A (p.Thr405=)	FGFR4	Single nucleotide variant (synonymous variant +1 more)	FGFR4-related disorder	GLikely benign
Select item 2685189	GRCh37/hg19 5q35.2(chr5:176483840-176588195)x1	FGFR4, NSD1 +1 more	Copy number loss	not provided	GPathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2622730	NM_213647.3(FGFR4):c.1990C>T (p.Arg664Trp)	FGFR4 (R624W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 2569870	NM_213647.3(FGFR4):c.2353G>A (p.Asp785Asn)	FGFR4 (D785N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548332	NM_213647.3(FGFR4):c.1345C>G (p.Leu449Val)	FGFR4 (L449V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2535536	NM_213647.3(FGFR4):c.712C>A (p.Leu238Met)	FGFR4 (L238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523792	NM_213647.3(FGFR4):c.568G>A (p.Ala190Thr)	FGFR4 (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520841	NM_213647.3(FGFR4):c.656G>A (p.Arg219His)	FGFR4 (R219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492159	NM_213647.3(FGFR4):c.44C>G (p.Pro15Arg)	FGFR4 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490461	NM_213647.3(FGFR4):c.1222A>C (p.Lys408Gln)	FGFR4 (K408Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462206	NM_213647.3(FGFR4):c.2347A>G (p.Ser783Gly)	FGFR4 (S743G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2424617	NC_000005.9:g.(?_176289625)_(177151363_?)del	B4GALT7, DBN1 +22 more	Deletion	Sotos syndrome	GPathogenic
Select item 2395427	NM_213647.3(FGFR4):c.685G>A (p.Ala229Thr)	FGFR4 (A229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378740	NM_213647.3(FGFR4):c.2404A>C (p.Thr802Pro)	FGFR4 (T802P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370589	NM_213647.3(FGFR4):c.2158G>A (p.Gly720Arg)	FGFR4 (G652R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364193	NM_213647.3(FGFR4):c.586C>T (p.Arg196Cys)	FGFR4 (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358577	NM_213647.3(FGFR4):c.1196A>C (p.His399Pro)	FGFR4 (H399P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349210	NM_213647.3(FGFR4):c.962G>A (p.Arg321Gln)	FGFR4 (R321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337241	NM_213647.3(FGFR4):c.791G>A (p.Gly264Asp)	FGFR4 (G264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334286	NM_213647.3(FGFR4):c.730C>T (p.Arg244Trp)	FGFR4 (R244W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310539	NM_213647.3(FGFR4):c.1180G>A (p.Ala394Thr)	FGFR4 (A394T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275133	NM_213647.3(FGFR4):c.2297C>G (p.Pro766Arg)	FGFR4 (P726R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250088	NM_213647.3(FGFR4):c.655C>T (p.Arg219Cys)	FGFR4 (R219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242896	NM_213647.3(FGFR4):c.1121C>T (p.Ala374Val)	FGFR4 (A374V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2232288	NM_213647.3(FGFR4):c.700C>T (p.Arg234Cys)	FGFR4 (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221559	NM_213647.3(FGFR4):c.1288T>C (p.Ser430Pro)	FGFR4 (S390P +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2221516	NM_213647.3(FGFR4):c.94C>T (p.Pro32Ser)	FGFR4 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809110	GRCh37/hg19 5q35.2(chr5:176448623-176520008)x1	FGFR4, ZNF346	Copy number loss	not provided	GUncertain significance
Select item 1808750	GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1707460	Single allele	CDHR2, EIF4E1B +71 more	Duplication	5q35 microduplication syndrome	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1679938	NM_213647.3(FGFR4):c.407C>T (p.Pro136Leu)	FGFR4 (P136L)	Single nucleotide variant (missense variant)	Classic Hodgkin lymphoma +1 more	GBenign/Likely benign
Select item 1437053	NC_000005.9:g.(?_176047812)_(177422934_?)del	B4GALT7, DBN1 +26 more	Deletion	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1340213	GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3	B4GALT7, COL23A1 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 1291710	NM_213647.3(FGFR4):c.28G>A (p.Val10Ile)	FGFR4 (V10I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 979536	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	ARL10, B4GALT7 +34 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	HIGD2A, HK3 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 830214	NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup	FGFR4, LMAN2 +4 more	Duplication	5q35 microduplication syndrome	GPathogenic
Select item 792022	NM_213647.3(FGFR4):c.684C>T (p.Asn228=)	FGFR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791423	NM_213647.3(FGFR4):c.1002C>T (p.Leu334=)	FGFR4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 782463	NM_213647.3(FGFR4):c.1944+6G>A	FGFR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773176	NM_213647.3(FGFR4):c.411G>A (p.Ser137=)	FGFR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764410	NM_213647.3(FGFR4):c.1944+7G>A	FGFR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745172	NM_213647.3(FGFR4):c.1404G>A (p.Val468=)	FGFR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738032	NM_213647.3(FGFR4):c.1397+7T>G	FGFR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712581	NM_213647.3(FGFR4):c.1772C>T (p.Ser591Phe)	FGFR4 (S523F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 690278	Single allele	UNC5A, ZNF346 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 685440	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625704	GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876)	B4GALT7, DBN1 +23 more	Copy number gain	not provided	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563129	GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1	DBN1, DDX41 +23 more	Copy number loss	not provided	GPathogenic
Select item 563126	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	ARL10, B4GALT7 +36 more	Copy number loss	not provided	GPathogenic
Select item 563125	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 443960	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 443249	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442010	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394090	GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 376737	NM_213647.3(FGFR4):c.1100A>G (p.Tyr367Cys)	FGFR4 (Y367C)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm	GLikely pathogenic
Select item 376151	NM_213647.3(FGFR4):c.1649T>A (p.Val550Glu)	FGFR4 (V550E +2 more)	Single nucleotide variant (missense variant)	Rhabdomyosarcoma	GLikely pathogenic
Select item 376150	NM_213647.3(FGFR4):c.1605C>G (p.Asn535Lys)	FGFR4 (N535K +2 more)	Single nucleotide variant (missense variant)	Rhabdomyosarcoma	GLikely pathogenic
Select item 376149	NM_213647.3(FGFR4):c.1605C>A (p.Asn535Lys)	FGFR4 (N535K +2 more)	Single nucleotide variant (missense variant)	Rhabdomyosarcoma	GLikely pathogenic

<< First< Prev

Page of 2