HPGD[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 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 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 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	LOC129993473, LOC129993474 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC129993510, LOC129993511 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	ACSL1, ADAM29 +375 more	Copy number loss	See cases	GPathogenic
Select item 59508	GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1	GALNTL6-AS1, GLRA3 +85 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	ACSL1, ADAM29 +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	PRIMPOL, RWDD4 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	ACSL1, ADAM29 +339 more	Copy number loss	See cases	GPathogenic
Select item 59512	GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1	ADAM29, AGA +103 more	Copy number loss	See cases	GPathogenic
Select item 148866	GRCh38/hg38 4q34.1(chr4:174309939-174880610)x1	CEP44, GLRA3 +8 more	Copy number loss	See cases	GUncertain significance
Select item 348169	NM_000860.6(HPGD):c.1725_1726delinsAT	HPGD	Indel (3 prime UTR variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GUncertain significance
Select item 348168	NM_000860.6(HPGD):c.*1726C>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GBenign
Select item 348170	NM_000860.6(HPGD):c.*1725G>A	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GBenign
Select item 899799	NM_000860.6(HPGD):c.*1643A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GLikely benign
Select item 348171	NM_000860.6(HPGD):c.*1618A>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 899800	NM_000860.6(HPGD):c.*1594A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348172	NM_000860.6(HPGD):c.*1584A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348173	NM_000860.6(HPGD):c.*1556C>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348174	NM_000860.6(HPGD):c.*1514A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GLikely benign
Select item 348175	NM_000860.6(HPGD):c.*1511A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348176	NM_000860.6(HPGD):c.*1478C>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 900962	NM_000860.6(HPGD):c.*1450C>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348177	NM_000860.6(HPGD):c.*1400T>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348178	NM_000860.6(HPGD):c.*1246G>A	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348179	NM_000860.6(HPGD):c.*1203A>C	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348180	NM_000860.6(HPGD):c.*1154T>C	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GBenign
Select item 348181	NM_000860.6(HPGD):c.*1131C>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 903468	NM_000860.6(HPGD):c.*1066G>A	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GLikely benign
Select item 903469	NM_000860.6(HPGD):c.*1044T>A	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348182	NM_000860.6(HPGD):c.*968T>C	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348183	NM_000860.6(HPGD):c.*941C>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348184	NM_000860.6(HPGD):c.*914A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 899858	NM_000860.6(HPGD):c.*819T>C	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348185	NM_000860.6(HPGD):c.*798del	HPGD	Deletion (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348186	NM_000860.6(HPGD):c.*749A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 899859	NM_000860.6(HPGD):c.*709A>C	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348187	NM_000860.6(HPGD):c.*679T>C	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 901032	NM_000860.6(HPGD):c.*648A>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GUncertain significance
Select item 901033	NM_000860.6(HPGD):c.*636T>C	HPGD	Single nucleotide variant (3 prime UTR variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GLikely benign
Select item 348188	NM_000860.6(HPGD):c.*630G>A	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GBenign
Select item 348189	NM_000860.6(HPGD):c.606_609del	HPGD	Deletion (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348190	NM_000860.6(HPGD):c.*510G>C	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 901586	NM_000860.6(HPGD):c.*451A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 901587	NM_000860.6(HPGD):c.*438A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GLikely benign
Select item 348191	NM_000860.6(HPGD):c.*418G>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GBenign
Select item 348192	NM_000860.6(HPGD):c.*248A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348193	NM_000860.6(HPGD):c.*207G>A	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GLikely benign
Select item 348194	NM_000860.6(HPGD):c.*157A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348195	NM_000860.6(HPGD):c.*132G>A	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GBenign
Select item 348196	NM_000860.6(HPGD):c.*95C>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GLikely benign
Select item 348197	NM_000860.6(HPGD):c.*87A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GLikely benign
Select item 348198	NM_000860.6(HPGD):c.*54A>T	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 899919	NM_000860.6(HPGD):c.*41A>G	HPGD	Single nucleotide variant (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 1925594	NM_000860.6(HPGD):c.798A>G (p.Gln266=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 348199	NM_000860.6(HPGD):c.773C>A (p.Thr258Lys)	HPGD (T258K +2 more)	Single nucleotide variant (missense variant +1 more)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 1359878	NM_000860.6(HPGD):c.764A>C (p.Asp255Ala)	HPGD (D255A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3106796	NM_000860.6(HPGD):c.763G>A (p.Asp255Asn)	HPGD (D187N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1928936	NM_000860.6(HPGD):c.748G>A (p.Gly250Arg)	HPGD (G250R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2105557	NM_000860.6(HPGD):c.722C>G (p.Ala241Gly)	HPGD (A173G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 901092	NM_000860.6(HPGD):c.721G>A (p.Ala241Thr)	HPGD (A241T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 1928666	NM_000860.6(HPGD):c.718G>T (p.Gly240Cys)	HPGD (G119C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1513711	NM_000860.6(HPGD):c.707A>G (p.Asp236Gly)	HPGD (D168G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937924	NM_000860.6(HPGD):c.672_698del (p.Leu224_Ile233delinsPhe)	HPGD	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 1896303	NM_000860.6(HPGD):c.686T>C (p.Leu229Ser)	HPGD (L229S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 348200	NM_000860.6(HPGD):c.680A>G (p.Asn227Ser)	HPGD (N227S +2 more)	Single nucleotide variant (missense variant +2 more)	HPGD-related disorder +3 more	GBenign/Likely benign
Select item 1923346	NM_000860.6(HPGD):c.670T>C (p.Leu224=)	HPGD (I169T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1479954	NM_000860.6(HPGD):c.665C>T (p.Pro222Leu)	HPGD (P154L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1552456	NM_000860.6(HPGD):c.663-11T>C	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557396	NM_000860.6(HPGD):c.663-16T>C	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232435	NM_000860.6(HPGD):c.662+100G>A	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182910	NM_000860.6(HPGD):c.662+68A>G	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272340	NM_000860.6(HPGD):c.662+56T>C	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278983	NM_000860.6(HPGD):c.662+24C>G	HPGD	Single nucleotide variant (intron variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GBenign
Select item 1408124	NM_000860.6(HPGD):c.662+5_662+8del	HPGD	Microsatellite (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2109996	NM_000860.6(HPGD):c.662+4A>G	HPGD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2499675	NM_000860.6(HPGD):c.662+2T>A	HPGD	Single nucleotide variant (splice donor variant +1 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	GPathogenic
Select item 731352	NM_000860.6(HPGD):c.662A>T (p.Asp221Val)	HPGD (D100V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 747035	NM_000860.6(HPGD):c.658T>C (p.Leu220=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1575100	NM_000860.6(HPGD):c.655A>T (p.Ile219Phe)	HPGD (I151F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1525167	NM_000860.6(HPGD):c.650A>G (p.Tyr217Cys)	HPGD (Y149C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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