IL17D[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 147997	GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	CRYL1, EEF1AKMT1 +84 more	Copy number loss	See cases	GUncertain significance
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 145365	GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	CRYL1, EEF1AKMT1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 656832	NC_000013.10:g.(?_20716100)_(21398980_?)dup	LOC130009329, LOC132090175 +32 more	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 152699	GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3	CRYL1, EEF1AKMT1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 155024	GRCh38/hg38 13q12.11(chr13:20344898-21521293)x1	CRYL1, EEF1AKMT1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 2325644	NM_001385224.1(IL17D):c.76G>A (p.Ala26Thr)	IL17D, LOC130009328 (A26T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343086	NM_001385224.1(IL17D):c.77C>T (p.Ala26Val)	IL17D, LOC130009328 (A33V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530400	NM_001385224.1(IL17D):c.80G>C (p.Arg27Pro)	IL17D, LOC130009328 (R27P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 740795	NM_001385224.1(IL17D):c.112C>T (p.Leu38=)	IL17D, LOC130009328	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2458690	NM_001385224.1(IL17D):c.148G>A (p.Val50Met)	IL17D, LOC130009328 (V50M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405826	NM_001385224.1(IL17D):c.196G>C (p.Ala66Pro)	IL17D, LOC130009328 (A73P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109138	NM_001385224.1(IL17D):c.212G>C (p.Cys71Ser)	IL17D, LOC130009328 (C71S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109139	NM_001385224.1(IL17D):c.238C>T (p.Arg80Cys)	IL17D, LOC130009328 (R80C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469195	NM_001385224.1(IL17D):c.254C>T (p.Pro85Leu)	IL17D, LOC130009328 (P92L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241935	NM_001385224.1(IL17D):c.280T>C (p.Trp94Arg)	IL17D, LOC130009328 (W94R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537228	NM_001385224.1(IL17D):c.301G>C (p.Asp101His)	IL17D (D101H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604498	NM_001385224.1(IL17D):c.313T>C (p.Tyr105His)	IL17D (Y21H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736788	NM_001385224.1(IL17D):c.339C>T (p.Tyr113=)	IL17D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3109140	NM_001385224.1(IL17D):c.361A>G (p.Thr121Ala)	IL17D (T121A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785439	NM_001385224.1(IL17D):c.366G>C (p.Gly122=)	IL17D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2538897	NM_001385224.1(IL17D):c.385G>A (p.Val129Met)	IL17D (V129M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109141	NM_001385224.1(IL17D):c.437C>G (p.Thr146Ser)	IL17D (T62S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718124	NM_001385224.1(IL17D):c.552C>G (p.Ile184Met)	IL17D (I184M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2241436	NM_001385224.1(IL17D):c.553G>C (p.Asp185His)	IL17D (D185H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521565	NM_001385224.1(IL17D):c.565G>A (p.Ala189Thr)	IL17D (A105T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109142	NM_001385224.1(IL17D):c.571C>G (p.Leu191Val)	IL17D (L191V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244212	NC_000013.10:g.(?_20472281)_(24052335_?)del	CRYL1, EEF1AKMT1 +16 more	Deletion	not provided	GPathogenic
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3063289	GRCh37/hg19 13q12.11(chr13:21037570-21398979)x3	CRYL1, EEF1AKMT1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2427534	NC_000013.10:g.(?_21086562)_(21278450_?)del	CRYL1, IFT88 +1 more	Deletion	not provided	GUncertain significance
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 830569	NC_000013.11:g.(?_20141961)_(20824841_?)del	CRYL1, EEF1AKMT1 +6 more	Deletion	Cataract 14 multiple types	GUncertain significance
Select item 815571	GRCh37/hg19 13q12.11(chr13:21034087-21404969)x3	IFT88, IL17D +3 more	Copy number gain	not provided	GUncertain significance
Select item 815569	GRCh37/hg19 13q12.11(chr13:20668070-23029230)x1	GJB6, IL17D +13 more	Copy number loss	not provided	GPathogenic
Select item 815567	GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	MPHOSPH8, FGF9 +27 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 686477	GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1	CRYL1, EEF1AKMT1 +14 more	Copy number loss	not provided	GPathogenic
Select item 685307	GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GPathogenic
Select item 625812	GRCh37/hg19 13q12.11(chr13:19540031-22849981)	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564075	GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	ATP12A, C1QTNF9 +30 more	Copy number loss	not provided	GPathogenic
Select item 564055	GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1	CRYL1, IFT88 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 73