17796[HGNC] - ClinVar

Search results

Items: 97

	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 2599742	NM_022459.5(XPO4):c.3436G>C (p.Gly1146Arg)	XPO4 (G1032R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366622	NM_022459.5(XPO4):c.3371C>T (p.Thr1124Met)	XPO4 (T1010M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221047	NM_022459.5(XPO4):c.3370A>G (p.Thr1124Ala)	XPO4 (T1010A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232015	NM_022459.5(XPO4):c.3333T>A (p.Asp1111Glu)	XPO4 (D1111E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333480	NM_022459.5(XPO4):c.3232T>C (p.Phe1078Leu)	XPO4 (F1078L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272709	NM_022459.5(XPO4):c.2924C>G (p.Thr975Ser)	XPO4 (T975S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267463	NM_022459.5(XPO4):c.2841A>T (p.Arg947Ser)	XPO4 (R947S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322336	NM_022459.5(XPO4):c.2728G>T (p.Asp910Tyr)	XPO4 (D910Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191240	NM_022459.5(XPO4):c.2686C>T (p.Arg896Trp)	XPO4 (R896W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341918	NM_022459.5(XPO4):c.2662G>C (p.Val888Leu)	XPO4 (V888L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312568	NM_022459.5(XPO4):c.2550G>T (p.Glu850Asp)	XPO4 (E850D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328472	NM_022459.5(XPO4):c.2543C>A (p.Thr848Asn)	XPO4 (T848N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467575	NM_022459.5(XPO4):c.2537A>G (p.Lys846Arg)	XPO4 (K846R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191239	NM_022459.5(XPO4):c.2530G>T (p.Val844Phe)	XPO4 (V844F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333479	NM_022459.5(XPO4):c.2167T>A (p.Cys723Ser)	XPO4 (C723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464116	NM_022459.5(XPO4):c.2090A>G (p.Gln697Arg)	XPO4 (Q697R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234023	NM_022459.5(XPO4):c.2074G>A (p.Val692Ile)	XPO4 (V692I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526801	NM_022459.5(XPO4):c.2059A>G (p.Ile687Val)	XPO4 (I687V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495033	NM_022459.5(XPO4):c.2036T>C (p.Ile679Thr)	XPO4 (I679T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368100	NM_022459.5(XPO4):c.1849G>A (p.Val617Ile)	XPO4 (V617I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333483	NM_022459.5(XPO4):c.1808C>G (p.Ser603Cys)	XPO4 (S603C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191236	NM_022459.5(XPO4):c.1676C>T (p.Pro559Leu)	XPO4 (P559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333482	NM_022459.5(XPO4):c.1585A>G (p.Asn529Asp)	XPO4 (N529D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191235	NM_022459.5(XPO4):c.1559C>T (p.Ala520Val)	XPO4 (A520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317946	NM_022459.5(XPO4):c.1470A>T (p.Glu490Asp)	XPO4 (E490D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338445	NM_022459.5(XPO4):c.1333G>C (p.Asp445His)	XPO4 (D445H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336121	NM_022459.5(XPO4):c.1277C>T (p.Thr426Ile)	XPO4 (T426I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191234	NM_022459.5(XPO4):c.1189A>G (p.Met397Val)	XPO4 (M397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191233	NM_022459.5(XPO4):c.1154G>A (p.Ser385Asn)	XPO4 (S385N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191232	NM_022459.5(XPO4):c.1151G>A (p.Arg384Gln)	XPO4 (R384Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713634	NM_022459.5(XPO4):c.1146T>C (p.Phe382=)	XPO4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2522188	NM_022459.5(XPO4):c.1138T>G (p.Cys380Gly)	XPO4 (C380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333191	NM_022459.5(XPO4):c.1123C>T (p.Leu375Phe)	XPO4 (L375F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333481	NM_022459.5(XPO4):c.1104C>G (p.Phe368Leu)	XPO4 (F368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481355	NM_022459.5(XPO4):c.1030A>C (p.Ile344Leu)	XPO4 (I344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543306	NM_022459.5(XPO4):c.1024G>A (p.Val342Met)	XPO4 (V342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191241	NM_022459.5(XPO4):c.991A>G (p.Ile331Val)	XPO4 (I331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258955	NM_022459.5(XPO4):c.946C>G (p.Gln316Glu)	XPO4 (Q316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622599	NM_022459.5(XPO4):c.875C>T (p.Ala292Val)	XPO4 (A292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249288	NM_022459.5(XPO4):c.742A>G (p.Ile248Val)	XPO4 (I248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916154	NM_022459.5(XPO4):c.645C>G (p.Leu215=)	XPO4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375258	NM_022459.5(XPO4):c.580G>T (p.Asp194Tyr)	XPO4 (D194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278639	NM_022459.5(XPO4):c.525C>G (p.Asn175Lys)	XPO4 (N175K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281436	NM_022459.5(XPO4):c.346C>A (p.Leu116Ile)	XPO4 (L116I)	Single nucleotide variant (missense variant)	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 2684693	GRCh37/hg19 13q12.11(chr13:21457862-21683681)x3	LATS2, XPO4	Copy number gain	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 1340969	GRCh37/hg19 13q12.11(chr13:21375066-21580403)x3	LATS2, XPO4	Copy number gain	not provided	GUncertain significance
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: 97