LOC130009362[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 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	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 58233	GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3	LINC00327, LINC00362 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146307	GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3	C1QTNF9, C1QTNF9B +62 more	Copy number gain	See cases	GLikely benign
Select item 146689	GRCh38/hg38 13q12.12(chr13:22822881-23533846)x1	LINC00327, LINC00362 +21 more	Copy number loss	See cases	GUncertain significance
Select item 1684647	NC_000013.11:g.22924987_24337204del	LOC112163649, LOC121466729 +57 more	Deletion	See cases	GUncertain significance
Select item 57578	GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3	C1QTNF9B, LINC00327 +55 more	Copy number gain	See cases	GUncertain significance
Select item 151247	GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 149939	GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151376	GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 545158	NC_000013.11:g.(?_22968338)_(24323208_?)del	LOC130009386, LOC130009387 +55 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57579	GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 151244	GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 149152	GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 148669	GRCh38/hg38 13q12.12(chr13:22980365-23533846)x1	LINC00327, LINC00362 +16 more	Copy number loss	See cases	GUncertain significance
Select item 59440	GRCh38/hg38 13q12.12(chr13:22992823-23499449)x1	LINC00327, LINC00362 +16 more	Copy number loss	See cases	GUncertain significance
Select item 57520	GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1	C1QTNF9, C1QTNF9B +54 more	Copy number loss	See cases	GUncertain significance
Select item 33369	GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 144578	GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1	C1QTNF9, C1QTNF9B +55 more	Copy number loss	See cases	GUncertain significance
Select item 145530	GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1	C1QTNF9B, LINC00327 +47 more	Copy number loss	See cases	GUncertain significance
Select item 658447	NC_000013.10:g.(?_23667335)_(23985388_?)dup	LOC130009367, LOC130009368 +10 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 652383	NC_000013.11:g.(?_23093196)_(23411249_?)del	LOC130009363, LOC130009364 +10 more	Deletion	Spastic paraplegia +1 more	GPathogenic
Select item 644837	NC_000013.11:g.(?_23093196)_(23368497_?)del	SACS, SGCG +5 more	Deletion	Spastic paraplegia	GPathogenic
Select item 583759	NC_000013.10:g.(?_23667335)_(23869646_?)dup	SGCG, LINC00362 +2 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 583650	NC_000013.11:g.(?_23093196)_(23411259_?)del	LOC130009367, LOC130009368 +10 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 461620	NC_000013.10:g.(?_23667335)_(23985398_?)dup	LOC130009364, LOC130009365 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 144165	GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1	LINC00327, LINC00362 +33 more	Copy number loss	See cases	GPathogenic
Select item 58234	GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3	LINC00327, LOC130009362 +23 more	Copy number gain	See cases	GUncertain significance
Select item 530810	NC_000013.11:g.(?_23203675)_(23279498_?)del	LOC130009362, SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic

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Items: 43