LOC108281129[gene] - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +173 more	Copy number loss	See cases	GPathogenic
Select item 148374	GRCh38/hg38 8q11.23(chr8:52294744-53104010)x3	ALKAL1, LOC108281129 +17 more	Copy number gain	See cases	GLikely benign
Select item 150753	GRCh38/hg38 8q11.23(chr8:52387273-52944183)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GLikely benign
Select item 150998	GRCh38/hg38 8q11.23(chr8:52387348-52986011)x3	ALKAL1, LOC108281129 +13 more	Copy number gain	See cases	GUncertain significance
Select item 545362	Single allele	ALKAL1, LOC108281129 +3 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545363	Single allele	ALKAL1, LOC108281129 +3 more	Duplication	Schizophrenia	GLikely pathogenic