ClinVar for MedGen (Select 1641972) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572459	NM_000860.6(HPGD):c.341G>A (p.Gly114Glu)	HPGD (G114E)	Single nucleotide variant (intron variant +2 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	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 2058441	NM_000860.6(HPGD):c.38C>A (p.Ala13Glu)	HPGD (A13E)	Single nucleotide variant (missense variant +2 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1708173	NM_000860.6(HPGD):c.498+1G>A	HPGD	Single nucleotide variant (splice donor variant +1 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	GPathogenic
Select item 1665681	NM_000860.6(HPGD):c.422-20G>A	HPGD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1399281	NM_000860.6(HPGD):c.284A>G (p.Asn95Ser)	HPGD (N95S)	Single nucleotide variant (missense variant +2 more)	Isolated congenital digital clubbing +2 more	GUncertain significance
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 973742	NM_000860.6(HPGD):c.313C>T (p.Gln105Ter)	HPGD (Q105*)	Single nucleotide variant (nonsense +2 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	GPathogenic
Select item 973741	NM_000860.6(HPGD):c.34G>A (p.Gly12Ser)	HPGD (G12S)	Single nucleotide variant (missense variant +2 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	GPathogenic
Select item 903589	NM_000860.6(HPGD):c.447G>A (p.Pro149=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GUncertain significance
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 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 901640	NM_000860.6(HPGD):c.501G>T (p.Leu167Phe)	HPGD (L167F +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +3 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 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 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 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 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 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 900187	NM_000860.6(HPGD):c.397A>G (p.Ile133Val)	HPGD (I12V +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 796877	NM_000860.6(HPGD):c.606A>G (p.Gln202=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	HPGD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 776029	NM_000860.6(HPGD):c.634G>A (p.Asp212Asn)	HPGD (D91N +2 more)	Single nucleotide variant (missense variant +1 more)	Isolated congenital digital clubbing +2 more	GBenign/Likely benign
Select item 727926	NM_000860.6(HPGD):c.432C>T (p.Pro144=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 599096	NM_000860.6(HPGD):c.446C>G (p.Pro149Arg)	HPGD (P149R +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	GLikely pathogenic
Select item 369440	NM_000860.5(HPGD):c.-453A>G	HPGD	Single nucleotide variant	not provided +2 more	GBenign
Select item 348213	NM_000860.5(HPGD):c.-404G>C	HPGD	Single nucleotide variant (5 prime UTR variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +2 more	GBenign
Select item 348212	NM_000860.5(HPGD):c.-353C>T	HPGD	Single nucleotide variant (5 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348211	NM_000860.5(HPGD):c.-302C>T	HPGD	Single nucleotide variant (5 prime UTR variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GUncertain significance
Select item 348210	NM_000860.5(HPGD):c.-235C>A	HPGD	Single nucleotide variant (5 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348209	NM_000860.5(HPGD):c.-221G>A	HPGD	Single nucleotide variant (5 prime UTR variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GUncertain significance
Select item 348208	NM_000860.5(HPGD):c.-221G>C	HPGD	Single nucleotide variant (5 prime UTR variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GUncertain significance
Select item 348207	NM_000860.5(HPGD):c.-156T>C	HPGD	Single nucleotide variant (intron variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GUncertain significance
Select item 348206	NM_000860.5(HPGD):c.-123C>T	HPGD	Single nucleotide variant (intron variant)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GUncertain significance
Select item 348205	NM_000860.6(HPGD):c.78G>A (p.Leu26=)	HPGD	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 348204	NM_000860.6(HPGD):c.156G>A (p.Gln52=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 348203	NM_000860.6(HPGD):c.421G>A (p.Gly141Arg)	HPGD (G141R +3 more)	Single nucleotide variant (missense variant +1 more)	Isolated congenital digital clubbing +1 more	GUncertain significance
Select item 348202	NM_000860.6(HPGD):c.489C>T (p.Arg163=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 348201	NM_000860.6(HPGD):c.520A>C (p.Ser174Arg)	HPGD (S174R +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +3 more	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 condition +3 more	GBenign/Likely 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 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 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 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 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 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 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 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 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 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 348189	NM_000860.6(HPGD):c.606_609del	HPGD	Deletion (3 prime UTR variant)	Isolated congenital digital clubbing +1 more	GUncertain significance
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 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 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 348185	NM_000860.6(HPGD):c.*798del	HPGD	Deletion (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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 289387	NM_000860.6(HPGD):c.433G>A (p.Val145Ile)	HPGD (V145I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 156027	NM_000860.6(HPGD):c.310_311del (p.Leu104fs)	HPGD (L104fs)	Microsatellite (frameshift variant +2 more)	HPGD-Related Disorders +2 more	GPathogenic
Select item 156026	NM_000860.6(HPGD):c.1A>T (p.Met1Leu)	HPGD (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 7919	NM_000860.6(HPGD):c.175_176del (p.Leu59fs)	HPGD (L59fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 7918	NM_000860.6(HPGD):c.232_241delinsCA (p.Val78fs)	HPGD (V78fs)	Indel (frameshift variant +2 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	GPathogenic
Select item 7917	NM_000860.6(HPGD):c.418G>C (p.Ala140Pro)	HPGD (A140P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic

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Items: 82