LOC128669075[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 58446	GRCh38/hg38 6q23.3(chr6:135249940-136439720)x1	AHI1, AHI1-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 2852820	NM_001134831.2(AHI1):c.3166-5C>G	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2838820	NM_001134831.2(AHI1):c.3166-7C>T	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3010852	NM_001134831.2(AHI1):c.3166-9C>T	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2865508	NM_001134831.2(AHI1):c.3166-12T>A	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2900835	NM_001134831.2(AHI1):c.3166-13A>C	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2716790	NM_001134831.2(AHI1):c.3166-14T>G	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2710327	NM_001134831.2(AHI1):c.3166-16C>G	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2862435	NM_001134831.2(AHI1):c.3166-17T>A	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign