ClinVar for Gene (Select 101927423) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2641094	NC_000011.10:g.798093G>C	PANO1, SLC25A22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641093	NC_000011.10:g.797700G>A	PANO1, SLC25A22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1686329	NM_001191061.2(SLC25A22):c.-164+135dup	PANO1, SLC25A22	Duplication (intron variant)	not specified	GBenign
Select item 1683800	NM_001191061.2(SLC25A22):c.-201G>T	PANO1, SLC25A22	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1273463	NM_001191061.2(SLC25A22):c.-164+282G>C	PANO1, SLC25A22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1182814	NM_001191061.2(SLC25A22):c.-164+383G>T	PANO1, SLC25A22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic