"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PANK2"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287783	NM_153638.4(PANK2):c.-11G>A	PANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 425264	NM_153638.4(PANK2):c.137A>T (p.Asp46Val)	PANK2 (D46V)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +2 more	GBenign/Likely benign
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
Select item 558892	NM_001386393.1(PANK2):c.489G>A (p.Leu163=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1946519	NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)	PANK2 (I218V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1810300	NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)	PANK2 (Y238F +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 558893	NM_001386393.1(PANK2):c.905+22C>T	PANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2465073	NM_001386393.1(PANK2):c.1001C>A (p.Thr334Asn)	PANK2 (T334N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 338364	NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT	PANK2	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 96525	NM_001386393.1(PANK2):c.1083-14_1083-9dup	PANK2	Duplication (intron variant)	Pigmentary pallidal degeneration +2 more	GBenign
Select item 4559	NM_001386393.1(PANK2):c.1083-1G>T	PANK2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558895	NM_001386393.1(PANK2):c.1163C>T (p.Thr388Ile)	PANK2 (T498I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4548	NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	PANK2 (G230R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 642654	NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)	PANK2 (I93V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 25