LOC126860753[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 1267128	NM_198252.3(GSN):c.-10+4621T>C	GSN, LOC126860753 (W14R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3040327	NM_198252.3(GSN):c.-10+4624G>T	GSN, LOC126860753	Single nucleotide variant (intron variant +1 more)	GSN-related condition	GLikely benign
Select item 1287428	NM_198252.3(GSN):c.-10+4781A>G	GSN, LOC126860753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659476	NM_198252.3(GSN):c.-10+5174_-10+5203del	GSN, LOC126860753	Deletion (intron variant +2 more)	not provided	GUncertain significance
Select item 2659477	NM_198252.3(GSN):c.-10+5185A>T	GSN, LOC126860753 (M1L)	Single nucleotide variant (intron variant +3 more)	not provided	GUncertain significance