PANK4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929093, LOC129929110 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	ACAP3, AGRN +243 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	LOC126805582, LOC129388419 +253 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 58319	GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	ACTRT2, ATAD3A +125 more	Copy number loss	See cases	GPathogenic
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 3304189	NM_018216.4(PANK4):c.2279G>A (p.Arg760Gln)	PANK4 (R760Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304191	NM_018216.4(PANK4):c.2216G>A (p.Arg739His)	PANK4 (R739H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638085	NM_018216.4(PANK4):c.2205C>T (p.His735=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337299	NM_018216.4(PANK4):c.2156A>T (p.Asp719Val)	PANK4 (D719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358333	NM_018216.4(PANK4):c.2101G>A (p.Asp701Asn)	PANK4 (D701N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354102	NM_018216.4(PANK4):c.2035G>T (p.Val679Leu)	PANK4 (V679L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228216	NM_018216.4(PANK4):c.2035G>A (p.Val679Met)	PANK4 (V679M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207349	NM_018216.4(PANK4):c.2018C>T (p.Ala673Val)	PANK4 (A673V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609198	NM_018216.4(PANK4):c.1930G>C (p.Gly644Arg)	PANK4 (G644R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508427	NM_018216.4(PANK4):c.1921C>G (p.Leu641Val)	PANK4 (L641V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208345	NM_018216.4(PANK4):c.1913G>A (p.Arg638Lys)	PANK4 (R638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286689	NM_018216.4(PANK4):c.1849T>G (p.Cys617Gly)	PANK4 (C617G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304188	NM_018216.4(PANK4):c.1717G>A (p.Ala573Thr)	PANK4 (A573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208344	NM_018216.4(PANK4):c.1702G>A (p.Asp568Asn)	PANK4 (D568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228861	NM_018216.4(PANK4):c.1646G>A (p.Gly549Asp)	PANK4 (G549D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585653	NM_018216.4(PANK4):c.1640C>T (p.Ala547Val)	PANK4 (A547V)	Single nucleotide variant (missense variant)	Cataract 49	GBenign
Select item 2617122	NM_018216.4(PANK4):c.1639G>T (p.Ala547Ser)	PANK4 (A547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208343	NM_018216.4(PANK4):c.1628G>A (p.Arg543His)	PANK4 (R543H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208342	NM_018216.4(PANK4):c.1627C>T (p.Arg543Cys)	PANK4 (R543C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387571	NM_018216.4(PANK4):c.1597G>A (p.Val533Met)	PANK4 (V533M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250774	NM_018216.4(PANK4):c.1469C>T (p.Thr490Ile)	PANK4 (T490I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529460	NM_018216.4(PANK4):c.1318G>A (p.Asp440Asn)	PANK4 (D440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638086	NM_018216.4(PANK4):c.1293C>T (p.Tyr431=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638087	NM_018216.4(PANK4):c.1284G>A (p.Pro428=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258577	NM_018216.4(PANK4):c.1208G>A (p.Arg403Gln)	PANK4 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589562	NM_018216.4(PANK4):c.1202G>A (p.Arg401Gln)	PANK4 (R401Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208341	NM_018216.4(PANK4):c.1193C>T (p.Pro398Leu)	PANK4 (P398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354180	NM_018216.4(PANK4):c.1192C>A (p.Pro398Thr)	PANK4 (P398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344173	NM_018216.4(PANK4):c.1168A>T (p.Met390Leu)	PANK4 (M390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 3208349	NM_018216.4(PANK4):c.953G>A (p.Arg318His)	PANK4 (R318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336602	NM_018216.4(PANK4):c.847G>A (p.Asp283Asn)	PANK4 (D283N)	Single nucleotide variant (missense variant)	Cataract 49	GUncertain significance
Select item 2219771	NM_018216.4(PANK4):c.836C>G (p.Ser279Trp)	PANK4 (S279W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638088	NM_018216.4(PANK4):c.795C>T (p.Leu265=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3304192	NM_018216.4(PANK4):c.781G>T (p.Ala261Ser)	PANK4 (A261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606302	NM_018216.4(PANK4):c.746A>G (p.Asn249Ser)	PANK4 (N249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547522	NM_018216.4(PANK4):c.713T>C (p.Leu238Pro)	PANK4 (L238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301909	NM_018216.4(PANK4):c.607-53G>A	PANK4	Single nucleotide variant (intron variant)	Cataract 49	GPathogenic
Select item 3304190	NM_018216.4(PANK4):c.601G>T (p.Val201Leu)	PANK4 (V201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408129	NM_018216.4(PANK4):c.580A>G (p.Ile194Val)	PANK4 (I194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235940	NM_018216.4(PANK4):c.490C>A (p.His164Asn)	PANK4 (H164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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