"PreventionGenetics, part of Exact Sciences"[submitter] AND "PANK2"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051873	NM_153638.4(PANK2):c.-4G>T	PANK2	Single nucleotide variant (5 prime UTR variant +1 more)	PANK2-related disorder	GLikely benign
Select item 2152872	NM_153638.4(PANK2):c.30C>T (p.Arg10=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	PANK2-related disorder +1 more	GLikely benign
Select item 289953	NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)	LOC130065345, PANK2 (R94G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897916	NM_001386393.1(PANK2):c.-28C>T	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	PANK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 285843	NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)	LOC130065345, PANK2 (G127V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +3 more	GBenign/Likely benign
Select item 2634258	NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)	LOC130065345, PANK2 (S145* +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	PANK2-related disorder +1 more	GPathogenic
Select item 3046416	NM_001386393.1(PANK2):c.117G>A (p.Glu39=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	PANK2-related disorder	GLikely benign
Select item 1609247	NM_001386393.1(PANK2):c.204G>C (p.Ser68=)	PANK2, LOC130065345	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +1 more	GLikely benign
Select item 338362	NM_001386393.1(PANK2):c.624G>A (p.Ala208=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	PANK2-related disorder +2 more	GBenign/Likely benign
Select item 773977	NM_001386393.1(PANK2):c.1083-3_1083-2del	PANK2	Microsatellite (splice acceptor variant)	Pigmentary pallidal degeneration +2 more	GConflicting classifications of pathogenicity