"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC130065345"[ - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1401101	NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)	LOC130065345, PANK2 (P63S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2683527	NM_153638.4(PANK2):c.227C>T (p.Ser76Leu)	LOC130065345, PANK2 (S76L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 444564	NM_153638.4(PANK2):c.276G>A (p.Arg92=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration +2 more	GBenign/Likely benign
Select item 3380647	NM_001386393.1(PANK2):c.-36T>G	LOC130065345, PANK2 (W99G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1400398	NM_001386393.1(PANK2):c.-21G>A	LOC130065345, PANK2 (E104K)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 193506	NM_001386393.1(PANK2):c.2T>A	PANK2, LOC130065345 (L111Q)	Single nucleotide variant (5 prime UTR variant +4 more)	not specified +2 more	GBenign/Likely benign
Select item 96526	NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)	LOC130065345, PANK2 (G126A +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +3 more	GBenign
Select item 559122	NM_001386393.1(PANK2):c.132C>T (p.Asp44=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GBenign
Select item 596781	NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr)	LOC130065345, PANK2 (S169T +1 more)	Indel (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 338360	NM_001386393.1(PANK2):c.189C>G (p.Pro63=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +1 more	GBenign/Likely benign
Select item 558890	NM_001386393.1(PANK2):c.201C>T (p.Ala67=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 558891	NM_001386393.1(PANK2):c.298+24C>A	LOC130065345, PANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign