"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2505162	GRCh38/hg38 2q13(chr2:110091573-110212811)	LOC126806305, LOC126806306 +5 more	Copy number loss	Nephronophthisis 1	GPathogenic
Select item 1676309	GRCh38/hg38 2q13(chr2:110091573-110205023)	LOC126806305, LOC126806306 +2 more	Copy number loss	Nephronophthisis 1	GPathogenic
Select item 1332712	NM_001128178.3(NPHP1):c.1352+5G>A	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis 1	GUncertain significance

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