Related gene-specific medical variations for Gene (Select 10568) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362777	NM_006424.3(SLC34A2):c.927+1G>C	SLC34A2	Single nucleotide variant (splice donor variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GLikely pathogenic
Select item 3065913	NM_006424.3(SLC34A2):c.1342_1361del (p.Val448fs)	SLC34A2 (V447fs +1 more)	Deletion (frameshift variant)	PULMONARY ALVEOLAR MICROLITHIASIS	GLikely pathogenic
Select item 814540	GRCh37/hg19 4p15.2(chr4:25505734-25730786)x3	SLC34A2	Copy number gain	not provided	GUncertain significance
Select item 687221	GRCh37/hg19 4p15.2(chr4:25530863-25744874)x3	SLC34A2	Copy number gain	not provided	GUncertain significance
Select item 687145	GRCh37/hg19 4p15.2(chr4:25668462-25681490)x1	SLC34A2	Copy number loss	not provided	GPathogenic

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