ClinVar for Gene (Select 3248) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 245

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284719	NM_000860.6(HPGD):c.598A>G (p.Met200Val)	HPGD (M132V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3246756	NC_000004.11:g.(?_171788098)_(175916898_?)del	ADAM29, CEP44 +9 more	Deletion	not provided	GUncertain significance
Select item 3148912	GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3	ADAM29, AGA +17 more	Copy number gain	not provided	GPathogenic
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 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023451	NM_000860.6(HPGD):c.93+19C>T	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007439	NM_000860.6(HPGD):c.253C>T (p.Leu85=)	HPGD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3006814	NM_000860.6(HPGD):c.422-13T>G	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982177	NM_000860.6(HPGD):c.597C>T (p.Asn199=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898889	NM_000860.6(HPGD):c.525T>C (p.Gly175=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2842323	NM_000860.6(HPGD):c.421+1G>A	HPGD	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2825211	NM_000860.6(HPGD):c.618T>C (p.Tyr206=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2788417	NM_000860.6(HPGD):c.498+16C>A	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689223	NM_000860.6(HPGD):c.526G>A (p.Val176Met)	HPGD (V108M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	GLRA3, GPM6A +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684400	GRCh37/hg19 4q34.1(chr4:175137313-175743525)x3	CEP44, FBXO8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
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 2557941	NM_000860.6(HPGD):c.364A>C (p.Met122Leu)	HPGD (M122L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2480446	NM_000860.6(HPGD):c.373C>G (p.Gln125Glu)	HPGD (Q4E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440745	NM_000860.6(HPGD):c.307del (p.Thr103fs)	HPGD (T103fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2423429	NC_000004.11:g.(?_175412477)_(175416795_?)del	HPGD	Deletion	not provided	GUncertain significance
Select item 2423428	NC_000004.11:g.(?_175429827)_(175439248_?)del	HPGD	Deletion	not provided	GLikely pathogenic
Select item 2423427	NC_000004.11:g.(?_174448428)_(175443602_?)del	CEP44, FBXO8 +2 more	Deletion	not provided	GPathogenic
Select item 2421297	NM_000860.6(HPGD):c.352G>A (p.Gly118Ser)	HPGD (G118S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2377598	NM_000860.6(HPGD):c.293A>C (p.Lys98Thr)	HPGD (K98T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2203595	NM_000860.6(HPGD):c.120del (p.Ala41fs)	HPGD (A41fs)	Deletion (frameshift variant +1 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +1 more	GPathogenic
Select item 2192508	NM_000860.6(HPGD):c.498G>A (p.Ala166=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2165294	NM_000860.6(HPGD):c.94-7T>C	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116436	NM_000860.6(HPGD):c.361dup (p.Tyr121fs)	HPGD (Y121fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2109996	NM_000860.6(HPGD):c.662+4A>G	HPGD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2105557	NM_000860.6(HPGD):c.722C>G (p.Ala241Gly)	HPGD (A173G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2081072	NM_000860.6(HPGD):c.220A>G (p.Thr74Ala)	HPGD (T74A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2058441	NM_000860.6(HPGD):c.38C>A (p.Ala13Glu)	HPGD (A13E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2002334	NM_000860.6(HPGD):c.373del (p.Gln125fs)	HPGD (Q125fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1998704	NM_000860.6(HPGD):c.14G>C (p.Gly5Ala)	HPGD (G5A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1998619	NM_000860.6(HPGD):c.200A>G (p.Asp67Gly)	HPGD (D67G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987563	NM_000860.6(HPGD):c.499-14C>A	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952655	NM_000860.6(HPGD):c.218-20del	HPGD	Deletion (intron variant)	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 1932699	NM_000860.6(HPGD):c.383G>T (p.Gly128Val)	HPGD (G128V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 1925594	NM_000860.6(HPGD):c.798A>G (p.Gln266=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 1906299	NM_000860.6(HPGD):c.218-1G>T	HPGD	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1904029	NM_000860.6(HPGD):c.498+17C>T	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1809761	NM_000860.6(HPGD):c.218-1G>A	HPGD	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
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 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1665681	NM_000860.6(HPGD):c.422-20G>A	HPGD	Single nucleotide variant (intron variant)	Isolated congenital digital clubbing +2 more	GBenign/Likely benign
Select item 1641029	NM_000860.6(HPGD):c.421+16A>G	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638488	NM_000860.6(HPGD):c.498+18G>A	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634429	NM_000860.6(HPGD):c.325-14T>C	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629478	NM_000860.6(HPGD):c.94-16C>T	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1623192	NM_000860.6(HPGD):c.94-19C>A	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604085	NM_000860.6(HPGD):c.369T>C (p.Ser123=)	HPGD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1596177	NM_000860.6(HPGD):c.217+8_217+9del	HPGD	Deletion (intron variant)	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 1557396	NM_000860.6(HPGD):c.663-16T>C	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1552456	NM_000860.6(HPGD):c.663-11T>C	HPGD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
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
Select item 1525133	NC_000004.11:g.(?_175413107)_(175443602_?)dup	HPGD	Duplication	not provided	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 1502096	NM_000860.6(HPGD):c.584A>C (p.Glu195Ala)	HPGD (E127A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1492260	NM_000860.6(HPGD):c.217+4A>G	HPGD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1475889	NM_000860.6(HPGD):c.218-6A>G	HPGD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1459858	NC_000004.11:g.(?_175429827)_(175429963_?)del	HPGD	Deletion	not provided	GPathogenic
Select item 1418466	NM_000860.6(HPGD):c.391G>A (p.Gly131Ser)	HPGD (G131S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1405970	NM_000860.6(HPGD):c.92A>G (p.Lys31Arg)	HPGD (K31R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1399281	NM_000860.6(HPGD):c.284A>G (p.Asn95Ser)	HPGD (N95S)	Single nucleotide variant (missense variant +2 more)	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +2 more	GUncertain significance
Select item 1394930	NM_000860.6(HPGD):c.466C>T (p.His156Tyr)	HPGD (H35Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1372083	NM_000860.6(HPGD):c.637A>G (p.Met213Val)	HPGD (M145V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1371315	NM_000860.6(HPGD):c.151G>A (p.Glu51Lys)	HPGD (E51K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1366843	NM_000860.6(HPGD):c.497C>T (p.Ala166Val)	HPGD (A166V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1350684	NM_000860.6(HPGD):c.233T>C (p.Val78Ala)	HPGD (V78A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1323063	NM_000860.6(HPGD):c.325-1G>C	HPGD	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1305962	NM_000860.6(HPGD):c.446C>T (p.Pro149Leu)	HPGD (P149L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1280835	NM_000860.6(HPGD):c.499-213A>T	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280113	NM_000860.6(HPGD):c.422-191C>T	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 1277375	NM_000860.6(HPGD):c.421+39C>T	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276926	NM_000860.6(HPGD):c.94-43C>A	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273521	NC_000004.12:g.174523214C>T	HPGD	Single nucleotide 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 1271982	NM_000860.6(HPGD):c.94-104T>C	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270541	NM_000860.6(HPGD):c.324+66A>G	HPGD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263121	NC_000004.12:g.174523231T>C	HPGD	Single nucleotide variant	not provided	GBenign

<< First< Prev

Page of 3