PANK2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1203236	NM_153638.4(PANK2):c.-138G>A	PANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 287783	NM_153638.4(PANK2):c.-11G>A	PANK2	Single nucleotide variant (5 prime UTR variant +1 more)	Pigmentary pallidal degeneration +2 more	GBenign/Likely benign
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 2866828	NM_153638.4(PANK2):c.7A>C (p.Arg3=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2879180	NM_153638.4(PANK2):c.9G>A (p.Arg3=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 567543	NM_153638.4(PANK2):c.9G>T (p.Arg3Ser)	PANK2 (R3S)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2854260	NM_153638.4(PANK2):c.12C>G (p.Leu4=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 286784	NM_153638.4(PANK2):c.12C>T (p.Leu4=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2201465	NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)	PANK2 (G5E)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2886311	NM_153638.4(PANK2):c.18C>T (p.Pro6=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2917850	NM_153638.4(PANK2):c.24C>T (p.His8=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2152872	NM_153638.4(PANK2):c.30C>T (p.Arg10=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 289028	NM_153638.4(PANK2):c.31G>A (p.Val11Ile)	PANK2 (V11I)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 935319	NM_153638.4(PANK2):c.34C>T (p.His12Tyr)	PANK2 (H12Y)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 646103	NM_153638.4(PANK2):c.37T>C (p.Trp13Arg)	PANK2 (W13R)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 422512	NM_153638.4(PANK2):c.42_67del (p.Ala15fs)	PANK2 (A15fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2179549	NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)	PANK2 (W13*)	Single nucleotide variant (nonsense +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2894344	NM_153638.4(PANK2):c.42G>A (p.Ala14=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2910876	NM_153638.4(PANK2):c.45G>A (p.Ala15=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1528946	NM_153638.4(PANK2):c.48G>A (p.Pro16=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely 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 1410142	NM_153638.4(PANK2):c.55C>T (p.Leu19Phe)	PANK2 (L19F)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2141110	NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)	PANK2 (S20P)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 805114	NM_153638.4(PANK2):c.61T>C (p.Ser21Pro)	PANK2 (S21P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3018996	NM_153638.4(PANK2):c.66G>C (p.Gly22=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2149914	NM_153638.4(PANK2):c.66G>A (p.Gly22=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1146047	NM_153638.4(PANK2):c.66G>T (p.Gly22=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2691349	NM_153638.4(PANK2):c.68_69insTG (p.His24fs)	PANK2 (H24fs)	Insertion (frameshift variant +1 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 2739330	NM_153638.4(PANK2):c.69A>G (p.Leu23=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2498880	NM_153638.4(PANK2):c.69A>C (p.Leu23=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2386607	NM_153638.4(PANK2):c.76C>T (p.Leu26Phe)	PANK2 (L26F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1519712	NM_153638.4(PANK2):c.79C>A (p.Leu27Ile)	PANK2 (L27I)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2791062	NM_153638.4(PANK2):c.81C>G (p.Leu27=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2891665	NM_153638.4(PANK2):c.84C>T (p.Phe28=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2725899	NM_153638.4(PANK2):c.89G>C (p.Arg30Pro)	PANK2 (R30P)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1370233	NM_153638.4(PANK2):c.95C>T (p.Thr32Ile)	PANK2 (T32I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 96527	NM_153638.4(PANK2):c.96C>T (p.Thr32=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration +1 more	GConflicting classifications of pathogenicity
Select item 1968679	NM_153638.4(PANK2):c.99G>A (p.Arg33=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
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 3013700	NM_153638.4(PANK2):c.105C>T (p.Pro35=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2752974	NM_153638.4(PANK2):c.108C>T (p.Ser36=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1367449	NM_153638.4(PANK2):c.113C>A (p.Thr38Asn)	PANK2 (T38N)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2885792	NM_153638.4(PANK2):c.114C>A (p.Thr38=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1622713	NM_153638.4(PANK2):c.114C>T (p.Thr38=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1941183	NM_153638.4(PANK2):c.117C>A (p.Thr39=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2156523	NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)	PANK2 (L40F)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2744282	NM_153638.4(PANK2):c.123C>T (p.Ser41=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2965386	NM_153638.4(PANK2):c.126G>T (p.Pro42=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 642965	NM_153638.4(PANK2):c.126del (p.Arg44fs)	PANK2 (R44fs)	Deletion (frameshift variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2194203	NM_153638.4(PANK2):c.129C>T (p.Pro43=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 287508	NM_153638.4(PANK2):c.131G>T (p.Arg44Leu)	PANK2 (R44L)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 425264	NM_153638.4(PANK2):c.137A>T (p.Asp46Val)	PANK2 (D46V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2910981	NM_153638.4(PANK2):c.141C>T (p.Ser47=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 3000929	NM_153638.4(PANK2):c.148T>C (p.Leu50=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2903746	NM_153638.4(PANK2):c.153C>T (p.Asp51=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 809219	NM_153638.4(PANK2):c.159C>T (p.Gly53=)	PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration +1 more	GConflicting classifications of pathogenicity
Select item 1347604	NM_153638.4(PANK2):c.160A>G (p.Thr54Ala)	PANK2 (T54A)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 1212886	NM_001386393.1(PANK2):c.298+100A>G	PANK2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1182829	NM_001386393.1(PANK2):c.298+309C>T	PANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219211	NM_001386393.1(PANK2):c.299-325G>T	PANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201430	NM_001386393.1(PANK2):c.299-250C>T	PANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257658	NM_001386393.1(PANK2):c.299-236A>G	PANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218289	NM_001386393.1(PANK2):c.299-158T>C	PANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2166918	NM_001386393.1(PANK2):c.299-14del	PANK2	Deletion (intron variant)	Pigmentary pallidal degeneration	GBenign
Select item 3010056	NM_001386393.1(PANK2):c.299-12T>C	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 3000947	NM_001386393.1(PANK2):c.299-12T>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 1439124	NM_001386393.1(PANK2):c.299-9C>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2957117	NM_001386393.1(PANK2):c.299-6A>G	PANK2	Single nucleotide variant (intron variant)	Pigmentary pallidal degeneration	GLikely benign
Select item 2736937	NM_001386393.1(PANK2):c.299-1G>A	PANK2	Single nucleotide variant (splice acceptor variant)	Pigmentary pallidal degeneration	GLikely pathogenic
Select item 2731213	NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)	PANK2 (W103* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 429264	NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)	PANK2 (G215E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1439787	NM_001386393.1(PANK2):c.317dup (p.Asp107fs)	PANK2 (D107fs +1 more)	Duplication (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 1719190	NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)	PANK2 (L106Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 1332742	NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)	PANK2 (I108L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 1571945	NM_001386393.1(PANK2):c.324C>T (p.Ile108=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2500822	NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)	PANK2 (G109S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely pathogenic
Select item 2741947	NM_001386393.1(PANK2):c.327T>G (p.Gly109=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2848240	NM_001386393.1(PANK2):c.336G>A (p.Leu112=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2760084	NM_001386393.1(PANK2):c.336G>T (p.Leu112=)	PANK2	Single nucleotide variant (synonymous variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2829502	NM_001386393.1(PANK2):c.339C>T (p.Val113=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2849873	NM_001386393.1(PANK2):c.345G>A (p.Leu115=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2901194	NM_001386393.1(PANK2):c.348A>G (p.Val116=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2713607	NM_001386393.1(PANK2):c.348A>T (p.Val116=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 456525	NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)	PANK2 (Y227C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration +1 more	GPathogenic
Select item 1068023	NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)	PANK2 (F118S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 1427635	NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser)	PANK2 (P120S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 1445493	NM_001386393.1(PANK2):c.367A>G (p.Ile123Val)	PANK2 (I123V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2809787	NM_001386393.1(PANK2):c.369C>T (p.Ile123=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1595451	NM_001386393.1(PANK2):c.369C>A (p.Ile123=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2994215	NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)	PANK2 (T124fs +1 more)	Deletion (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GPathogenic
Select item 4554	NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)	PANK2 (T234A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2770032	NM_001386393.1(PANK2):c.381A>G (p.Glu127=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 933476	NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly)	PANK2 (E238G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 526629	NM_001386393.1(PANK2):c.384A>G (p.Glu128=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration +1 more	GLikely benign
Select item 2867043	NM_001386393.1(PANK2):c.387G>A (p.Glu129=)	PANK2	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2910347	NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)	PANK2 (E131D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 1952216	NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)	PANK2 (V242L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2621691	NM_001386393.1(PANK2):c.400A>C (p.Ser134Arg)	PANK2 (S244R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 945844	NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup)	PANK2	Duplication (5 prime UTR variant +2 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2637624	NM_001386393.1(PANK2):c.416G>C (p.Arg139Pro)	PANK2 (R139P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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