LOC126860691[gene] - ClinVar

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Items: 23

	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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 59904	GRCh38/hg38 9q22.32-22.33(chr9:96094968-96620662)x3	CDC14B, HABP4 +32 more	Copy number gain	See cases	GPathogenic
Select item 2460602	NM_033331.4(CDC14B):c.1268A>G (p.Asn423Ser)	CDC14B, LOC126860691 (N400S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140772	NM_033331.4(CDC14B):c.1241A>C (p.Glu414Ala)	CDC14B, LOC126860691 (E414A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140771	NM_033331.4(CDC14B):c.1240G>A (p.Glu414Lys)	CDC14B, LOC126860691 (E391K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207210	NM_033331.4(CDC14B):c.1177C>T (p.Leu393Phe)	CDC14B, LOC126860691 (L393F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140770	NM_033331.4(CDC14B):c.1136A>G (p.Lys379Arg)	CDC14B, LOC126860691 (K342R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140769	NM_033331.4(CDC14B):c.1124G>A (p.Arg375His)	CDC14B, LOC126860691 (R352H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 23