"Illumina Laboratory Services, Illumina"[submitter] AND "PANK2"[gene] - ClinVar

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Items: 45

	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 specified +2 more	GBenign/Likely benign
Select item 338357	NM_153638.4(PANK2):c.54A>G (p.Ser18=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
Select item 896296	NM_153638.4(PANK2):c.104C>T (p.Pro35Leu)	PANK2 (P35L)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 425264	NM_153638.4(PANK2):c.137A>T (p.Asp46Val)	PANK2 (D46V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 338358	NM_153638.4(PANK2):c.272C>T (p.Pro91Leu)	LOC130065345, PANK2 (P91L)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	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 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 338359	NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)	LOC130065345, PANK2 (R94P)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +1 more	GBenign/Likely benign
Select item 897914	NM_153638.4(PANK2):c.283C>A (p.Leu95Ile)	LOC130065345, PANK2 (L95I)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 897915	NM_001386393.1(PANK2):c.-29C>T	LOC130065345, PANK2 (A101V)	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 897916	NM_001386393.1(PANK2):c.-28C>T	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	PANK2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 897917	NM_001386393.1(PANK2):c.-10G>A	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
Select item 193506	NM_001386393.1(PANK2):c.2T>A	LOC130065345, PANK2 (L111Q)	Single nucleotide variant (5 prime UTR variant +4 more)	not provided +2 more	GBenign/Likely benign
Select item 899052	NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser)	PANK2, LOC130065345 (L114S +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 720016	NM_001386393.1(PANK2):c.18G>A (p.Gly6=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
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 285843	NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)	LOC130065345, PANK2 (G127V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +3 more	GBenign/Likely benign
Select item 899053	NM_001386393.1(PANK2):c.54G>C (p.Arg18=)	PANK2, LOC130065345	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
Select item 899054	NM_001386393.1(PANK2):c.66C>T (p.Pro22=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	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)	not provided +1 more	GBenign/Likely benign
Select item 894918	NM_001386393.1(PANK2):c.255G>A (p.Ser85=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
Select item 772588	NM_001386393.1(PANK2):c.255G>T (p.Ser85=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +1 more	GConflicting classifications of pathogenicity
Select item 737006	NM_001386393.1(PANK2):c.258C>G (p.Val86=)	LOC130065345, PANK2	Single nucleotide variant (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
Select item 894919	NM_001386393.1(PANK2):c.298+10C>T	LOC130065345, PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
Select item 338361	NM_001386393.1(PANK2):c.298+15G>C	LOC130065345, PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
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 338362	NM_001386393.1(PANK2):c.624G>A (p.Ala208=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	PANK2-related condition +2 more	GBenign/Likely benign
Select item 758349	NM_001386393.1(PANK2):c.694T>C (p.Leu232=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
Select item 896367	NM_001386393.1(PANK2):c.717T>C (p.Ile239=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
Select item 338363	NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)	PANK2 (R440C +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +1 more	GConflicting classifications of pathogenicity
Select item 896368	NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GConflicting classifications of pathogenicity
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)	not specified +2 more	GBenign
Select item 812786	NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	PANK2 (K478E +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 896369	NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu)	PANK2 (M507L +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 338365	NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)	PANK2 (A562T +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 338366	NM_001386393.1(PANK2):c.*63dup	PANK2	Duplication (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 338367	NM_001386393.1(PANK2):c.*218A>G	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 338368	NM_001386393.1(PANK2):c.*376A>G	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 338369	NM_001386393.1(PANK2):c.*382C>T	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 897986	NM_001386393.1(PANK2):c.*391C>G	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 338370	NM_001386393.1(PANK2):c.*407A>G	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 897987	NM_001386393.1(PANK2):c.*468T>C	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 897988	NM_001386393.1(PANK2):c.*534A>G	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 338371	NM_001386393.1(PANK2):c.*541C>T	PANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance

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Items: 45