LOC126860388[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 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 545364	Single allele	ALKAL1, LOC126860387 +10 more	Duplication	Autism	GLikely pathogenic
Select item 152322	GRCh38/hg38 8q11.23(chr8:52513633-52875424)x3	ALKAL1, LOC126860387 +10 more	Copy number gain	See cases	GUncertain significance
Select item 149393	GRCh38/hg38 8q11.23(chr8:52513649-52822370)x3	ALKAL1, LOC126860387 +9 more	Copy number gain	See cases	GLikely benign
Select item 545366	Single allele	ALKAL1, LOC126860387 +10 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 151997	GRCh38/hg38 8q11.23(chr8:52554777-52875424)x3	ALKAL1, LOC126860388 +9 more	Copy number gain	See cases	GUncertain significance
Select item 545367	Single allele	ALKAL1, LOC126860388 +9 more	Duplication	Autism	GLikely pathogenic
Select item 545368	Single allele	LINC02984, LOC105375836 +19 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545369	Single allele	LOC126860388, LOC130000363 +6 more	Duplication	Schizophrenia	GLikely pathogenic

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Items: 21