LOC130009316[gene] - ClinVar

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

Search results

Items: 34

	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 150234	GRCh38/hg38 13q12.11(chr13:20179998-20605371)x1	CRYL1, GJB2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 2500795	NC_000013.11:g.20222821_20531941del	CRYL1, GJB6 +14 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B	GPathogenic
Select item 153408	GRCh38/hg38 13q12.11(chr13:20222842-20530348)x1	CRYL1, GJB6 +14 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 5546	del(GJB6-D13S1830)	CRYL1, GJB2 +15 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +2 more	GPathogenic
Select item 5548	NC_000013.11:g.(20228574_20228587)_(20460616_20460629)del	CRYL1, GJB6 +8 more	Deletion	Deafness, digenic, GJB2/GJB6	GPathogenic
Select item 152699	GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3	CRYL1, EEF1AKMT1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 152617	GRCh38/hg38 13q12.11(chr13:20234405-20443962)x1	CRYL1, LOC126861704 +7 more	Copy number loss	See cases	GLikely benign
Select item 147920	GRCh38/hg38 13q12.11(chr13:20234405-20427177)x1	CRYL1, LOC126861704 +6 more	Copy number loss	See cases	GBenign
Select item 144211	GRCh38/hg38 13q12.11(chr13:20234405-20504774)x1	CRYL1, LOC126861704 +9 more	Copy number loss	See cases	GUncertain significance
Select item 154752	GRCh38/hg38 13q12.11(chr13:20234428-20504762)x1	CRYL1, LOC126861704 +9 more	Copy number loss	See cases	GLikely benign
Select item 57616	GRCh38/hg38 13q12.11(chr13:20249154-20521759)x1	CRYL1, LOC112163647 +10 more	Copy number loss	See cases	GPathogenic
Select item 155024	GRCh38/hg38 13q12.11(chr13:20344898-21521293)x1	CRYL1, EEF1AKMT1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 253028	NC_000013.11:g.20365207_20496559del	LOC130009317, LOC130009318 +9 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34