"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2981548	NM_021729.6(VPS11):c.6G>A (p.Ala2=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2972729	NM_021729.6(VPS11):c.6G>C (p.Ala2=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2891142	NM_021729.6(VPS11):c.9C>T (p.Ala3=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2043378	NM_021729.6(VPS11):c.10T>C (p.Tyr4His)	LOC130006886, VPS11 (Y4H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2065202	NM_021729.6(VPS11):c.13C>T (p.Leu5=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1612557	NM_021729.6(VPS11):c.15G>A (p.Leu5=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2896867	NM_021729.6(VPS11):c.24G>A (p.Arg8=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2055756	NM_021729.6(VPS11):c.24G>C (p.Arg8=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3002072	NM_021729.6(VPS11):c.27C>T (p.Arg9=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2966844	NM_021729.6(VPS11):c.30C>T (p.Phe10=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1479845	NM_021729.6(VPS11):c.30C>A (p.Phe10Leu)	LOC130006886, VPS11 (F10L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance