ClinVar for MedGen (Select 1641972) - ClinVar

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Items: 82

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25724591.	NM_000860.6(HPGD):c.341G>A (p.Gly114Glu) GRCh37: Chr4:175429927 GRCh38: Chr4:174508776	HPGD	G114E	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance	criteria provided, single submitter
Select item 24996752.	NM_000860.6(HPGD):c.662+2T>A GRCh37: Chr4:175414300 GRCh38: Chr4:174493149	HPGD		Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Pathogenic (Apr 25, 2023)	criteria provided, single submitter
Select item 20584413.	NM_000860.6(HPGD):c.38C>A (p.Ala13Glu) GRCh37: Chr4:175443565 GRCh38: Chr4:174522414	HPGD	A13E	not provided, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 17081734.	NM_000860.6(HPGD):c.498+1G>A GRCh37: Chr4:175416698 GRCh38: Chr4:174495547	HPGD		Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Pathogenic	no assertion criteria provided
Select item 16656815.	NM_000860.6(HPGD):c.422-20G>A GRCh37: Chr4:175416795 GRCh38: Chr4:174495644	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13992816.	NM_000860.6(HPGD):c.284A>G (p.Asn95Ser) GRCh37: Chr4:175439162 GRCh38: Chr4:174518011	HPGD	N95S	Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, not provided	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12789837.	NM_000860.6(HPGD):c.662+24C>G GRCh37: Chr4:175414278 GRCh38: Chr4:174493127	HPGD		not provided, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9737428.	NM_000860.6(HPGD):c.313C>T (p.Gln105Ter) GRCh37: Chr4:175439133 GRCh38: Chr4:174517982	HPGD	Q105*	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Pathogenic	criteria provided, single submitter
Select item 9737419.	NM_000860.6(HPGD):c.34G>A (p.Gly12Ser) GRCh37: Chr4:175443569 GRCh38: Chr4:174522418	HPGD	G12S	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Pathogenic (Jul 23, 2020)	no assertion criteria provided
Select item 90358910.	NM_000860.6(HPGD):c.447G>A (p.Pro149=) GRCh37: Chr4:175416750 GRCh38: Chr4:174495599	HPGD		Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90346911.	NM_000860.6(HPGD):c.*1044T>A GRCh37: Chr4:175412063 GRCh38: Chr4:174490912	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90346812.	NM_000860.6(HPGD):c.*1066G>A GRCh37: Chr4:175412041 GRCh38: Chr4:174490890	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90164013.	NM_000860.6(HPGD):c.501G>T (p.Leu167Phe) GRCh37: Chr4:175414463 GRCh38: Chr4:174493312	HPGD	L167F, L46F, L99F	Inborn genetic diseases, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, not provided	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90158714.	NM_000860.6(HPGD):c.*438A>G GRCh37: Chr4:175412669 GRCh38: Chr4:174491518	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90158615.	NM_000860.6(HPGD):c.*451A>G GRCh37: Chr4:175412656 GRCh38: Chr4:174491505	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90109216.	NM_000860.6(HPGD):c.721G>A (p.Ala241Thr) GRCh37: Chr4:175413187 GRCh38: Chr4:174492036	HPGD	A241T, A173T, A120T	Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90103317.	NM_000860.6(HPGD):c.*636T>C GRCh37: Chr4:175412471 GRCh38: Chr4:174491320	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90103218.	NM_000860.6(HPGD):c.*648A>T GRCh37: Chr4:175412459 GRCh38: Chr4:174491308	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90096219.	NM_000860.6(HPGD):c.*1450C>T GRCh37: Chr4:175411657 GRCh38: Chr4:174490506	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90018720.	NM_000860.6(HPGD):c.397A>G (p.Ile133Val) GRCh37: Chr4:175429871 GRCh38: Chr4:174508720	HPGD	I12V, I133V	Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89991921.	NM_000860.6(HPGD):c.*41A>G GRCh37: Chr4:175413066 GRCh38: Chr4:174491915	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89985922.	NM_000860.6(HPGD):c.*709A>C GRCh37: Chr4:175412398 GRCh38: Chr4:174491247	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89985823.	NM_000860.6(HPGD):c.*819T>C GRCh37: Chr4:175412288 GRCh38: Chr4:174491137	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89980024.	NM_000860.6(HPGD):c.*1594A>G GRCh37: Chr4:175411513 GRCh38: Chr4:174490362	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89979925.	NM_000860.6(HPGD):c.*1643A>G GRCh37: Chr4:175411464 GRCh38: Chr4:174490313	HPGD		Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 79687726.	NM_000860.6(HPGD):c.606A>G (p.Gln202=) GRCh37: Chr4:175414358 GRCh38: Chr4:174493207	HPGD		not provided, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 77602927.	NM_000860.6(HPGD):c.634G>A (p.Asp212Asn) GRCh37: Chr4:175414330 GRCh38: Chr4:174493179	HPGD	D91N, D144N, D212N	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, not provided	Benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72792628.	NM_000860.6(HPGD):c.432C>T (p.Pro144=) GRCh37: Chr4:175416765 GRCh38: Chr4:174495614	HPGD		Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59909629.	NM_000860.6(HPGD):c.446C>G (p.Pro149Arg) GRCh37: Chr4:175416751 GRCh38: Chr4:174495600	HPGD	P149R, P81R, P28R	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely pathogenic (Mar 26, 2018)	no assertion criteria provided
Select item 36944030.	NM_000860.5(HPGD):c.-453A>G GRCh37: Chr4:175444055 GRCh38: Chr4:174522904	HPGD		not provided, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing	Benign (Jun 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34821331.	NM_000860.5(HPGD):c.-404G>C GRCh37: Chr4:175444006 GRCh38: Chr4:174522855	HPGD		not provided, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34821232.	NM_000860.5(HPGD):c.-353C>T GRCh37: Chr4:175443955 GRCh38: Chr4:174522804	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34821133.	NM_000860.5(HPGD):c.-302C>T GRCh37: Chr4:175443904 GRCh38: Chr4:174522753	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34821034.	NM_000860.5(HPGD):c.-235C>A GRCh37: Chr4:175443837 GRCh38: Chr4:174522686	HPGD		Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34820935.	NM_000860.5(HPGD):c.-221G>A GRCh37: Chr4:175443823 GRCh38: Chr4:174522672	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34820836.	NM_000860.5(HPGD):c.-221G>C GRCh37: Chr4:175443823 GRCh38: Chr4:174522672	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34820737.	NM_000860.5(HPGD):c.-156T>C GRCh37: Chr4:175443758 GRCh38: Chr4:174522607	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34820638.	NM_000860.5(HPGD):c.-123C>T GRCh37: Chr4:175443725 GRCh38: Chr4:174522574	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34820539.	NM_000860.6(HPGD):c.78G>A (p.Leu26=) GRCh37: Chr4:175443525 GRCh38: Chr4:174522374	HPGD		not provided, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Conflicting interpretations of pathogenicity (May 15, 2022)	criteria provided, conflicting interpretations
Select item 34820440.	NM_000860.6(HPGD):c.156G>A (p.Gln52=) GRCh37: Chr4:175443156 GRCh38: Chr4:174522005	HPGD		not provided, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34820341.	NM_000860.6(HPGD):c.421G>A (p.Gly141Arg) GRCh37: Chr4:175429847 GRCh38: Chr4:174508696	HPGD	G141R, G141S, A141T, G20R	Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34820242.	NM_000860.6(HPGD):c.489C>T (p.Arg163=) GRCh37: Chr4:175416708 GRCh38: Chr4:174495557	HPGD		not provided, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34820143.	NM_000860.6(HPGD):c.520A>C (p.Ser174Arg) GRCh37: Chr4:175414444 GRCh38: Chr4:174493293	HPGD	S174R, S106R, S53R	Inborn genetic diseases, not provided, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34820044.	NM_000860.6(HPGD):c.680A>G (p.Asn227Ser) GRCh37: Chr4:175413228 GRCh38: Chr4:174492077	HPGD	N227S, N106S, N159S	not provided, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34819945.	NM_000860.6(HPGD):c.773C>A (p.Thr258Lys) GRCh37: Chr4:175413135 GRCh38: Chr4:174491984	HPGD	T258K, T137K, T190K	Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34819846.	NM_000860.6(HPGD):c.*54A>T GRCh37: Chr4:175413053 GRCh38: Chr4:174491902	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34819747.	NM_000860.6(HPGD):c.*87A>G GRCh37: Chr4:175413020 GRCh38: Chr4:174491869	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34819648.	NM_000860.6(HPGD):c.*95C>G GRCh37: Chr4:175413012 GRCh38: Chr4:174491861	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34819549.	NM_000860.6(HPGD):c.*132G>A GRCh37: Chr4:175412975 GRCh38: Chr4:174491824	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34819450.	NM_000860.6(HPGD):c.*157A>G GRCh37: Chr4:175412950 GRCh38: Chr4:174491799	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34819351.	NM_000860.6(HPGD):c.*207G>A GRCh37: Chr4:175412900 GRCh38: Chr4:174491749	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34819252.	NM_000860.6(HPGD):c.*248A>G GRCh37: Chr4:175412859 GRCh38: Chr4:174491708	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34819153.	NM_000860.6(HPGD):c.*418G>T GRCh37: Chr4:175412689 GRCh38: Chr4:174491538	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34819054.	NM_000860.6(HPGD):c.*510G>C GRCh37: Chr4:175412597 GRCh38: Chr4:174491446	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34818955.	NM_000860.6(HPGD):c.606_609del GRCh37: Chr4:175412498-175412501 GRCh38: Chr4:174491347-174491350	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34818856.	NM_000860.6(HPGD):c.*630G>A GRCh37: Chr4:175412477 GRCh38: Chr4:174491326	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34818757.	NM_000860.6(HPGD):c.*679T>C GRCh37: Chr4:175412428 GRCh38: Chr4:174491277	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34818658.	NM_000860.6(HPGD):c.*749A>G GRCh37: Chr4:175412358 GRCh38: Chr4:174491207	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34818559.	NM_000860.6(HPGD):c.*798del GRCh37: Chr4:175412309 GRCh38: Chr4:174491158	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34818460.	NM_000860.6(HPGD):c.*914A>G GRCh37: Chr4:175412193 GRCh38: Chr4:174491042	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34818361.	NM_000860.6(HPGD):c.*941C>T GRCh37: Chr4:175412166 GRCh38: Chr4:174491015	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34818262.	NM_000860.6(HPGD):c.*968T>C GRCh37: Chr4:175412139 GRCh38: Chr4:174490988	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34818163.	NM_000860.6(HPGD):c.*1131C>T GRCh37: Chr4:175411976 GRCh38: Chr4:174490825	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34818064.	NM_000860.6(HPGD):c.*1154T>C GRCh37: Chr4:175411953 GRCh38: Chr4:174490802	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34817965.	NM_000860.6(HPGD):c.*1203A>C GRCh37: Chr4:175411904 GRCh38: Chr4:174490753	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34817866.	NM_000860.6(HPGD):c.*1246G>A GRCh37: Chr4:175411861 GRCh38: Chr4:174490710	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34817767.	NM_000860.6(HPGD):c.*1400T>G GRCh37: Chr4:175411707 GRCh38: Chr4:174490556	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34817668.	NM_000860.6(HPGD):c.*1478C>T GRCh37: Chr4:175411629 GRCh38: Chr4:174490478	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34817569.	NM_000860.6(HPGD):c.*1511A>G GRCh37: Chr4:175411596 GRCh38: Chr4:174490445	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34817470.	NM_000860.6(HPGD):c.*1514A>G GRCh37: Chr4:175411593 GRCh38: Chr4:174490442	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34817371.	NM_000860.6(HPGD):c.*1556C>T GRCh37: Chr4:175411551 GRCh38: Chr4:174490400	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34817272.	NM_000860.6(HPGD):c.*1584A>G GRCh37: Chr4:175411523 GRCh38: Chr4:174490372	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34817173.	NM_000860.6(HPGD):c.*1618A>T GRCh37: Chr4:175411489 GRCh38: Chr4:174490338	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34817074.	NM_000860.6(HPGD):c.*1725G>A GRCh37: Chr4:175411382 GRCh38: Chr4:174490231	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34816975.	NM_000860.6(HPGD):c.1725_1726delinsAT GRCh37: Chr4:175411381-175411382 GRCh38: Chr4:174490230-174490231	HPGD		Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34816876.	NM_000860.6(HPGD):c.*1726C>T GRCh37: Chr4:175411381 GRCh38: Chr4:174490230	HPGD		Isolated congenital digital clubbing, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 28938777.	NM_000860.6(HPGD):c.433G>A (p.Val145Ile) GRCh37: Chr4:175416764 GRCh38: Chr4:174495613	HPGD	V145I, V77I, V24I	not provided, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1, Isolated congenital digital clubbing	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15602778.	NM_000860.6(HPGD):c.310_311del (p.Leu104fs) GRCh37: Chr4:175439135-175439136 GRCh38: Chr4:174517984-174517985	HPGD	L104fs	HPGD-Related Disorders, not provided	Pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15602679.	NM_000860.6(HPGD):c.1A>T (p.Met1Leu) GRCh37: Chr4:175443602 GRCh38: Chr4:174522451	HPGD	M1L	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Pathogenic (Nov 1, 2009)	no assertion criteria provided
Select item 791980.	NM_000860.6(HPGD):c.175_176del (p.Leu59fs) GRCh37: Chr4:175443136-175443137 GRCh38: Chr4:174521985-174521986	HPGD	L59fs	not provided, Isolated congenital digital clubbing	Pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 791881.	NM_000860.6(HPGD):c.232_241delinsCA (p.Val78fs) GRCh37: Chr4:175439205-175439214 GRCh38: Chr4:174518054-174518063	HPGD	V78fs	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Pathogenic (Jun 1, 2008)	no assertion criteria provided
Select item 791782.	NM_000860.6(HPGD):c.418G>C (p.Ala140Pro) GRCh37: Chr4:175429850 GRCh38: Chr4:174508699	HPGD	A140P, A19P	not provided, Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Pathogenic (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 82