"GeneDx"[submitter] AND "LOC130065345"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 338359	NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)	PANK2, LOC130065345 (R94P)	Single nucleotide variant (missense variant +1 more)	not provided +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)	not provided +1 more	GUncertain significance
Select item 1708654	NM_001386393.1(PANK2):c.-23A>C	LOC130065345, PANK2 (E103A)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1305961	NM_001386393.1(PANK2):c.-2C>T	LOC130065345, PANK2 (T110M)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	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 1254219	NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu)	LOC130065345, PANK2 (G112E +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
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 specified +2 more	GBenign/Likely benign
Select item 504213	NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)	LOC130065345, PANK2 (S169fs +1 more)	Deletion (5 prime UTR variant +3 more)	Pigmentary pallidal degeneration +2 more	GPathogenic/Likely pathogenic
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 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 3340409	NM_001386393.1(PANK2):c.298+5G>C	LOC130065345, PANK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 558891	NM_001386393.1(PANK2):c.298+24C>A	LOC130065345, PANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179457	NM_001386393.1(PANK2):c.298+30C>G	LOC130065345, PANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272453	NM_001386393.1(PANK2):c.298+34C>T	LOC130065345, PANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284106	NM_001386393.1(PANK2):c.298+35C>T	LOC130065345, PANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286420	NM_001386393.1(PANK2):c.298+42C>A	LOC130065345, PANK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign