PALLD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993418, LOC129993419 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC126807277, LOC126807278 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	AADAT, ACSL1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	AADAT, ACSL1 +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC441052, LRP2BP +455 more	Copy number loss	See cases	GPathogenic
Select item 155164	GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3	AADAT, ANXA10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 155558	GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3	AADAT, ANXA10 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 1292400	NC_000004.12:g.168496974G>A	PALLD	Single nucleotide variant	not provided	GBenign
Select item 348017	NM_001166108.2(PALLD):c.-179G>C	PALLD	Single nucleotide variant (5 prime UTR variant)	Pancreatic cancer, susceptibility to, 1	GBenign
Select item 348018	NM_001166108.2(PALLD):c.-178G>A	PALLD	Single nucleotide variant (5 prime UTR variant)	Pancreatic cancer, susceptibility to, 1	GUncertain significance
Select item 348019	NM_001166108.2(PALLD):c.-172C>A	PALLD	Single nucleotide variant (5 prime UTR variant)	Pancreatic cancer, susceptibility to, 1	GUncertain significance
Select item 902038	NM_001166108.2(PALLD):c.-162C>T	PALLD	Single nucleotide variant (5 prime UTR variant)	Pancreatic cancer, susceptibility to, 1	GBenign
Select item 348020	NM_001166108.2(PALLD):c.-161A>T	PALLD	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 348021	NM_001166108.2(PALLD):c.-143A>G	PALLD	Single nucleotide variant (5 prime UTR variant)	Pancreatic cancer, susceptibility to, 1	GUncertain significance
Select item 348022	NM_001166108.2(PALLD):c.-139G>T	PALLD	Single nucleotide variant (5 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
Select item 902039	NM_001166108.2(PALLD):c.-135A>G	PALLD	Single nucleotide variant (5 prime UTR variant)	Pancreatic cancer, susceptibility to, 1	GUncertain significance
Select item 902040	NM_001166108.2(PALLD):c.-115C>G	PALLD	Single nucleotide variant (5 prime UTR variant)	Pancreatic cancer, susceptibility to, 1	GUncertain significance
Select item 182796	NM_001166108.2(PALLD):c.-83+8A>G	PALLD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 348023	NM_001166108.2(PALLD):c.-83+9G>A	PALLD	Single nucleotide variant (intron variant)	Pancreatic cancer, susceptibility to, 1	GUncertain significance
Select item 1245061	NM_001166108.2(PALLD):c.-83+67del	PALLD	Deletion (intron variant)	not provided	GBenign
Select item 1226420	NM_001166108.2(PALLD):c.-83+87T>C	PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177943	NM_001166108.2(PALLD):c.-82-309dup	PALLD	Duplication (intron variant)	not provided	GBenign
Select item 1295087	NM_001166108.2(PALLD):c.-82-280C>T	PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252334	NM_001166108.2(PALLD):c.-82-231T>C	PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289336	NM_001166108.2(PALLD):c.-82-107_-82-106del	PALLD	Deletion (intron variant)	not provided	GBenign
Select item 348024	NM_001166108.2(PALLD):c.-8G>A	PALLD	Single nucleotide variant (5 prime UTR variant)	Pancreatic cancer, susceptibility to, 1	GBenign/Likely benign
Select item 1756592	NM_001166108.2(PALLD):c.6A>T (p.Ser2=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1756590	NM_001166108.2(PALLD):c.6A>G (p.Ser2=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 902926	NM_001166108.2(PALLD):c.8G>T (p.Gly3Val)	PALLD (G3V)	Single nucleotide variant (missense variant)	PALLD-related disorder +2 more	GBenign/Likely benign
Select item 2448461	NM_001166108.2(PALLD):c.11C>T (p.Thr4Ile)	PALLD (T4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1769350	NM_001166108.2(PALLD):c.12C>T (p.Thr4=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3208121	NM_001166108.2(PALLD):c.14C>T (p.Ser5Phe)	PALLD (S5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497015	NM_001166108.2(PALLD):c.14C>A (p.Ser5Tyr)	PALLD (S5Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448487	NM_001166108.2(PALLD):c.15C>T (p.Ser5=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1776132	NM_001166108.2(PALLD):c.15C>G (p.Ser5=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 348025	NM_001166108.2(PALLD):c.18C>T (p.Ser6=)	PALLD	Single nucleotide variant (synonymous variant)	Pancreatic cancer, susceptibility to, 1 +3 more	GBenign
Select item 1787620	NM_001166108.2(PALLD):c.21T>A (p.His7Gln)	PALLD (H7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1790700	NM_001166108.2(PALLD):c.23A>T (p.Glu8Val)	PALLD (E8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1792231	NM_001166108.2(PALLD):c.24G>C (p.Glu8Asp)	PALLD (E8D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3226785	NM_001166108.2(PALLD):c.27C>G (p.Ser9=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1735063	NM_001166108.2(PALLD):c.37T>G (p.Ser13Ala)	PALLD (S13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1735060	NM_001166108.2(PALLD):c.37T>C (p.Ser13Pro)	PALLD (S13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563393	NM_001166108.2(PALLD):c.38C>A (p.Ser13Tyr)	PALLD (S13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226819	NM_001166108.2(PALLD):c.48C>A (p.Asp16Glu)	PALLD (D16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1743941	NM_001166108.2(PALLD):c.48C>T (p.Asp16=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1744657	NM_001166108.2(PALLD):c.49A>G (p.Met17Val)	PALLD (M17V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1744653	NM_001166108.2(PALLD):c.49A>C (p.Met17Leu)	PALLD (M17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2447413	NM_001166108.2(PALLD):c.50T>C (p.Met17Thr)	PALLD (M17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746030	NM_001166108.2(PALLD):c.51G>T (p.Met17Ile)	PALLD (M17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1749727	NM_001166108.2(PALLD):c.57A>G (p.Glu19=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2497003	NM_001166108.2(PALLD):c.63C>T (p.Ser21=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 348026	NM_001166108.2(PALLD):c.65A>G (p.Lys22Arg)	PALLD (K22R)	Single nucleotide variant (missense variant)	Pancreatic cancer, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1755499	NM_001166108.2(PALLD):c.67A>G (p.Asn23Asp)	PALLD (N23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756045	NM_001166108.2(PALLD):c.68A>G (p.Asn23Ser)	PALLD (N23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756585	NM_001166108.2(PALLD):c.69T>C (p.Asn23=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1759726	NM_001166108.2(PALLD):c.75C>T (p.Asp25=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448469	NM_001166108.2(PALLD):c.78C>T (p.Phe26=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1763644	NM_001166108.2(PALLD):c.84G>A (p.Pro28=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764705	NM_001166108.2(PALLD):c.87C>A (p.Gly29=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3208132	NM_001166108.2(PALLD):c.91T>C (p.Ser31Pro)	PALLD (S31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448442	NM_001166108.2(PALLD):c.95C>G (p.Ala32Gly)	PALLD (A32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1779781	NM_001166108.2(PALLD):c.105C>T (p.Ser35=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 902927	NM_001166108.2(PALLD):c.107A>G (p.Gln36Arg)	PALLD (Q36R)	Single nucleotide variant (missense variant)	Pancreatic cancer, susceptibility to, 1	GUncertain significance
Select item 1788881	NM_001166108.2(PALLD):c.108G>A (p.Gln36=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1733691	NM_001166108.2(PALLD):c.114G>A (p.Glu38=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1739274	NM_001166108.2(PALLD):c.116T>A (p.Ile39Lys)	PALLD (I39K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1749717	NM_001166108.2(PALLD):c.120C>A (p.Asn40Lys)	PALLD (N40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226719	NM_001166108.2(PALLD):c.122A>T (p.Lys41Met)	PALLD (K41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1769330	NM_001166108.2(PALLD):c.129T>C (p.Leu43=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2563378	NM_001166108.2(PALLD):c.131A>T (p.Asp44Val)	PALLD (D44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770800	NM_001166108.2(PALLD):c.135G>A (p.Leu45=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1771251	NM_001166108.2(PALLD):c.137C>T (p.Ala46Val)	PALLD (A46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226733	NM_001166108.2(PALLD):c.138C>A (p.Ala46=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1771501	NM_001166108.2(PALLD):c.138C>T (p.Ala46=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3226734	NM_001166108.2(PALLD):c.139C>A (p.Arg47=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1771729	NM_001166108.2(PALLD):c.139C>T (p.Arg47Trp)	PALLD (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 128098	NM_001166108.2(PALLD):c.140G>A (p.Arg47Gln)	PALLD (R47Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1772230	NM_001166108.2(PALLD):c.141G>C (p.Arg47=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1772682	NM_001166108.2(PALLD):c.143G>C (p.Arg48Thr)	PALLD (R48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226736	NM_001166108.2(PALLD):c.145G>A (p.Ala49Thr)	PALLD (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1773327	NM_001166108.2(PALLD):c.146C>T (p.Ala49Val)	PALLD (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563404	NM_001166108.2(PALLD):c.147C>T (p.Ala49=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1773965	NM_001166108.2(PALLD):c.149T>C (p.Ile50Thr)	PALLD (I50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1774585	NM_001166108.2(PALLD):c.152C>A (p.Ala51Asp)	PALLD (A51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2447384	NM_001166108.2(PALLD):c.153C>T (p.Ala51=)	PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3226742	NM_001166108.2(PALLD):c.154G>T (p.Asp52Tyr)	PALLD (D52Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226741	NM_001166108.2(PALLD):c.154G>C (p.Asp52His)	PALLD (D52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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