PANK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
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 1197052	NM_153638.4(PANK2):c.-53G>A	LOC130065344, PANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194321	NM_153638.4(PANK2):c.-22G>C	LOC130065344, PANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 526631	NC_000020.11:g.(?_3889081)_(3912654_?)del	LOC125384566, LOC130065344 +4 more	Deletion	Pigmentary pallidal degeneration	GPathogenic
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 565299	NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)del	MIR103A2, LOC125384566 +5 more	Deletion	Cone-rod dystrophy	GPathogenic
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)	Inborn genetic diseases +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)	PANK2-related disorder +1 more	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)	Inborn genetic diseases +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)	Inborn genetic diseases +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)	Pigmentary pallidal degeneration +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)	not provided +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 1914513	NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)	LOC130065345, PANK2 (P58S)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 1401101	NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)	LOC130065345, PANK2 (P63S)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2709816	NM_153638.4(PANK2):c.189G>A (p.Pro63=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1352796	NM_153638.4(PANK2):c.200A>C (p.Glu67Ala)	LOC130065345, PANK2 (E67A)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2291578	NM_153638.4(PANK2):c.207T>G (p.Phe69Leu)	LOC130065345, PANK2 (F69L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2164695	NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)	LOC130065345, PANK2 (G70A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2831629	NM_153638.4(PANK2):c.213G>C (p.Pro71=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1988196	NM_153638.4(PANK2):c.219A>G (p.Pro73=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2731713	NM_153638.4(PANK2):c.222C>G (p.Ala74=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
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 1402990	NM_153638.4(PANK2):c.239C>T (p.Pro80Leu)	PANK2, LOC130065345 (P80L)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2708817	NM_153638.4(PANK2):c.243G>T (p.Ala81=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1435724	NM_153638.4(PANK2):c.245G>A (p.Arg82His)	LOC130065345, PANK2 (R82H)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 2471191	NM_153638.4(PANK2):c.251G>A (p.Arg84His)	LOC130065345, PANK2 (R84H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2708273	NM_153638.4(PANK2):c.252C>T (p.Arg84=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2997042	NM_153638.4(PANK2):c.258A>C (p.Gly86=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2817520	NM_153638.4(PANK2):c.264C>T (p.Gly88=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 1004958	NM_153638.4(PANK2):c.272C>G (p.Pro91Arg)	LOC130065345, PANK2 (P91R)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
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 2910063	NM_153638.4(PANK2):c.273G>A (p.Pro91=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
Select item 2712752	NM_153638.4(PANK2):c.273G>C (p.Pro91=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	Pigmentary pallidal degeneration	GLikely benign
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 2040245	NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)	LOC130065345, PANK2 (R94S)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration	GUncertain significance
Select item 289953	NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)	LOC130065345, PANK2 (R94G)	Single nucleotide variant (missense variant +1 more)	PANK2-related disorder +2 more	GConflicting classifications of pathogenicity

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