Related gene-specific medical variations for Gene (Select 64718) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 886152	NM_032520.5(GNPTG):c.*233C>T	GNPTG, UNKL	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 886151	NM_032520.5(GNPTG):c.*165A>T	GNPTG, UNKL	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 317901	NM_032520.5(GNPTG):c.*257dup	GNPTG, UNKL	Duplication (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 317900	NM_032520.5(GNPTG):c.*224T>C	GNPTG, UNKL	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis +1 more	GBenign/Likely benign
Select item 317899	NM_032520.5(GNPTG):c.*205T>C	GNPTG, UNKL	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance

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