ClinVar for Gene (Select 27189) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109137	NM_013278.4(IL17C):c.562G>A (p.Gly188Ser)	IL17C (G188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109136	NM_013278.4(IL17C):c.553G>A (p.Val185Ile)	IL17C (V185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109134	NM_013278.4(IL17C):c.481C>T (p.Arg161Trp)	IL17C (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109133	NM_013278.4(IL17C):c.448C>T (p.Arg150Trp)	IL17C (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109131	NM_013278.4(IL17C):c.209T>C (p.Leu70Pro)	IL17C (L70P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063445	GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3	CTU2, CYBA +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 2685589	GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 2568619	NM_013278.4(IL17C):c.479G>A (p.Arg160His)	IL17C (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557534	NM_013278.4(IL17C):c.389T>C (p.Leu130Pro)	IL17C (L130P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547030	NM_013278.4(IL17C):c.503C>G (p.Ser168Trp)	IL17C (S168W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521812	NM_013278.4(IL17C):c.206G>A (p.Ser69Asn)	IL17C (S69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2471792	NM_013278.4(IL17C):c.146C>A (p.Pro49Gln)	IL17C (P49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2376953	NM_013278.4(IL17C):c.496G>A (p.Asp166Asn)	IL17C (D166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366148	NM_013278.4(IL17C):c.508C>A (p.Leu170Ile)	IL17C (L170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362199	NM_013278.4(IL17C):c.104A>G (p.His35Arg)	IL17C (H35R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351727	NM_013278.4(IL17C):c.476G>A (p.Arg159His)	IL17C (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348082	NM_013278.4(IL17C):c.274C>T (p.Arg92Trp)	IL17C (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330042	NM_013278.4(IL17C):c.403A>G (p.Ile135Val)	IL17C (I135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318628	NM_013278.4(IL17C):c.394A>G (p.Arg132Gly)	IL17C (R132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258292	NM_013278.4(IL17C):c.449G>A (p.Arg150Gln)	IL17C (R150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249618	NM_013278.4(IL17C):c.493C>T (p.Arg165Cys)	IL17C (R165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228816	NM_013278.4(IL17C):c.80A>G (p.His27Arg)	IL17C (H27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212634	NM_013278.4(IL17C):c.133G>A (p.Gly45Ser)	IL17C (G45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209534	NM_013278.4(IL17C):c.5C>T (p.Thr2Met)	IL17C (T2M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207164	NM_013278.4(IL17C):c.494G>A (p.Arg165His)	IL17C (R165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808404	GRCh37/hg19 16q24.2-24.3(chr16:88697181-88809407)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1341552	NC_000016.9:g.88365786_89584412del1218627	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 790169	NM_013278.4(IL17C):c.94G>A (p.Gly32Ser)	IL17C (G32S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786947	NM_013278.4(IL17C):c.588A>G (p.Ser196=)	IL17C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782896	NM_013278.4(IL17C):c.499G>A (p.Gly167Ser)	IL17C (G167S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 764104	NM_013278.4(IL17C):c.336-5C>T	IL17C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688519	GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3	BANP, CA5A +11 more	Copy number gain	not provided	GUncertain significance
Select item 686714	GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 686179	GRCh37/hg19 16q24.2-24.3(chr16:88697092-88791148)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 585240	GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3	CDT1, IL17C +15 more	Copy number gain	not provided	Gnot provided
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560033	Single allele	IL17C, ACSF3 +29 more	Deletion	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	BANP, ACSF3 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	VPS9D1, ZC3H18 +59 more	Copy number gain	See cases	GPathogenic
Select item 442336	GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1	ACSF3, ANKRD11 +20 more	Copy number loss	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 442166	GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3	APRT, BANP +15 more	Copy number gain	See cases	GLikely benign
Select item 441835	GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3	ACSF3, APRT +18 more	Copy number gain	See cases	GUncertain significance
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 441081	GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1	ACSF3, ANKRD11 +30 more	Copy number loss	not provided	Gnot provided
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 267485	Single allele	ACSF3, ZNF778 +17 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267482	Single allele	ACSF3, ANKRD11 +30 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267481	Single allele	CDT1, CTU2 +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267480	Single allele	ACSF3, ANKRD11 +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267479	Single allele	CDT1, APRT +11 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267478	Single allele	CTU2, CYBA +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267476	Single allele	ACSF3, IL17C +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267475	Single allele	ZC3H18, ZCCHC14 +29 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267474	Single allele	MVD, PABPN1L +20 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 253986	GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3	ACSF3, ANKRD11 +24 more	Copy number gain	See cases	GUncertain significance
Select item 253753	GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	ACSF3, APRT +23 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic

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