hypnum propeptide - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 140

<< First< Prev

Page of 2

The following term was not found in ClinVar: hypnum.
Showing results for Hypnum proreptile. Your search for Hypnum proreptile retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297692	NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	PCSK9 (E32K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 536202	NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)	PCSK9 (E34K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GUncertain significance
Select item 630138	NM_174936.4(PCSK9):c.136C>T (p.Arg46Cys)	PCSK9 (R46C)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2454168	NM_174936.4(PCSK9):c.147G>C (p.Glu49Asp)	PCSK9 (E49D)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 925334	NM_174936.4(PCSK9):c.164C>T (p.Ala55Val)	PCSK9 (A55V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 629199	NM_174936.4(PCSK9):c.247A>G (p.Lys83Glu)	PCSK9 (K83E)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 440714	NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)	PCSK9 (R96C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 468297	NM_174936.4(PCSK9):c.290G>A (p.Arg97His)	PCSK9 (R97H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GLikely benign
Select item 375844	NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)	PCSK9 (D129N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 924431	NM_174936.4(PCSK9):c.421G>A (p.Asp141Asn)	PCSK9 (D141N)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 666252	NM_001854.4(COL11A1):c.652-2A>C	COL11A1	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal dominant 37	GPathogenic
Select item 8424	NM_000396.4(CTSK):c.236G>A (p.Gly79Glu)	CTSK (G79E)	Single nucleotide variant (missense variant)	Pyknodysostosis	GPathogenic
Select item 1683244	NM_000396.4(CTSK):c.235G>A (p.Gly79Arg)	CTSK (G79R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553560	NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	CTSK (R46W)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 213839	NM_003238.6(TGFB2):c.199G>A (p.Val67Met)	TGFB2 (V67M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2637753	NM_003238.6(TGFB2):c.355C>T (p.Pro119Ser)	TGFB2 (P119S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 213840	NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	TGFB2 (P119L +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 656158	NM_003238.6(TGFB2):c.428A>G (p.Asn143Ser)	TGFB2 (N143S +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 295490	NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys)	TGFB2 (E197K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 155837	NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	TGFB2 (V207L +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 988901	GRCh37/hg19 1p21.1(chr1:103446394-105602157)x1	AMY2A, AMY2B +5 more	Copy number loss	not provided	GUncertain significance
Select item 16206	NM_000821.7(GGCX):c.763G>A (p.Val255Met)	GGCX (V255M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 628748	NM_000090.4(COL3A1):c.86_88del (p.Glu29del)	COL3A1 (E29del)	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, type 4 +3 more	GUncertain significance
Select item 924898	NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)	COL3A1 (A40T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 924477	NM_000090.4(COL3A1):c.235A>G (p.Ile79Val)	COL3A1 (I79V)	Single nucleotide variant (missense variant)	COL3A1-related disorder +1 more	GUncertain significance
Select item 928328	NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser)	COL3A1 (A94S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 921016	NM_000090.4(COL3A1):c.300T>A (p.Asn100Lys)	COL3A1 (N100K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 629606	NM_000090.4(COL3A1):c.320C>G (p.Pro107Arg)	COL3A1 (P107R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 951179	NM_000090.4(COL3A1):c.448-1G>T	COL3A1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 921015	NM_000090.4(COL3A1):c.3676G>A (p.Asp1226Asn)	COL3A1 (D1226N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 161218	NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)	COL3A1 (K1313R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +6 more	GConflicting classifications of pathogenicity
Select item 920570	NM_000090.4(COL3A1):c.3964G>C (p.Glu1322Gln)	COL3A1 (E1322Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 264160	NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser)	COL3A1 (G1335S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 918373	NM_000090.4(COL3A1):c.4178T>G (p.Met1393Arg)	COL3A1 (M1393R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 629570	NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr)	COL3A1 (K1407T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 488189	NM_001622.4(AHSG):c.950G>A (p.Arg317His)	AHSG (R317H +3 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 1	GPathogenic
Select item 18213	NM_000477.5(ALB):c.67C>T (p.Arg23Cys)	ALB (R23C)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 18187	NM_000477.7(ALB):c.74A>T (p.Asp25Val)	ALB (D25V)	Single nucleotide variant (missense variant)	Alloalbuminemia	GPathogenic
Select item 2627896	NM_000477.7(ALB):c.[1030G>A;67C>T]	ALB (A344T +1 more)	Single nucleotide variant (missense variant)	ALBUMIN REDHILL	Gother
Select item 1806219	NM_005429.5(VEGFC):c.781G>A (p.Asp261Asn)	VEGFC, HAFML (D261N)	Single nucleotide variant (missense variant)	Lymphatic malformation 4	GLikely benign
Select item 906972	NM_000439.5(PCSK1):c.541T>C (p.Tyr181His)	CAST, LOC101929710 +1 more (Y134H +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency +1 more	GUncertain significance
Select item 14363	NM_002317.7(LOX):c.473G>A (p.Arg158Gln)	LOX, SRFBP1 (R158Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 1801214	NM_001718.6(BMP6):c.283C>T (p.Pro95Ser)	BMP6	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1801215	NM_001718.6(BMP6):c.287T>C (p.Leu96Pro)	BMP6	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1801217	NM_001718.6(BMP6):c.334G>C (p.Glu112Gln)	BMP6 (E112Q)	Single nucleotide variant (missense variant)	Iron overload, susceptibility to	Grisk factor
Select item 1801216	NM_001718.6(BMP6):c.337C>G (p.Gln113Glu)	BMP6	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1801219	NM_001718.6(BMP6):c.770G>A (p.Arg257His)	BMP6 (R257H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 17120	NM_080680.3(COL11A2):c.4392+1G>A	COL11A2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 17250	NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)	COL1A2 (R708Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1709348	NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)	COL1A2 (A1119T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic/Likely pathogenic
Select item 618022	NM_000089.4(COL1A2):c.3785A>G (p.Asn1262Ser)	COL1A2 (N1262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13213	NM_001317778.2(SFTPC):c.196G>A (p.Glu66Lys)	SFTPC (E66K)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GPathogenic
Select item 13208	NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)	SFTPC (I73T +1 more)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GPathogenic
Select item 362562	NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)	SFTPC (L181V +2 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2 +3 more	GConflicting classifications of pathogenicity
Select item 37306	NM_006129.5(BMP1):c.747C>G (p.Phe249Leu)	BMP1 (F249L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GLikely pathogenic
Select item 190231	NM_006129.5(BMP1):c.2108-359T>C	BMP1	Single nucleotide variant (3 prime UTR variant +2 more)	Osteogenesis imperfecta type 13	GPathogenic
Select item 2691559	NM_020361.5(CPA6):c.192G>C (p.Lys64Asn)	CPA6 (K64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8373	NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	GDF6 (K424R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +4 more	GConflicting classifications of pathogenicity
Select item 8376	NM_001001557.4(GDF6):c.980C>A (p.Pro327His)	GDF6 (P327H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GBenign
Select item 8375	NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu)	GDF6 (Q253L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 8374	NM_001001557.4(GDF6):c.125G>T (p.Gly42Val)	GDF6 (G42V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 3362787	NM_139027.6(ADAMTS13):c.722del (p.Gly241fs)	ADAMTS13 (G241fs)	Deletion (frameshift variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 3362788	NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter)	ADAMTS13 (W924* +1 more)	Single nucleotide variant (nonsense +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 17192	NM_000093.5(COL5A1):c.655-2A>G	COL5A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely pathogenic
Select item 17183	NM_000093.5(COL5A1):c.3906+3G>T	COL5A1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 17185	NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)	COL5A1, LOC101448202 (C1639S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 17184	NM_000093.5(COL5A1):c.5370+3_5370+6del	COL5A1, LOC101448202	Deletion (splice donor variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 213001	NM_000093.5(COL5A1):c.5395G>A (p.Val1799Ile)	COL5A1, LOC101448202 (V1799I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805633	NM_018055.5(NODAL):c.188C>A (p.Ala63Glu)	NODAL (A63E)	Single nucleotide variant (missense variant +1 more)	Situs inversus	GUncertain significance
Select item 60678	NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys)	CTSF (Y231C)	Single nucleotide variant (missense variant)	CTSF-related disorder	GUncertain significance
Select item 372128	NM_015973.5(GAL):c.116C>A (p.Ala39Glu)	GAL (A39E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 8	GPathogenic
Select item 7299	NM_001814.6(CTSC):c.380A>C (p.His127Pro)	CTSC (H127P)	Single nucleotide variant (missense variant)	Papillon-Lefèvre syndrome +2 more	GUncertain significance
Select item 1338197	NM_000039.3(APOA1):c.80C>A (p.Pro27His)	APOA1, APOA1-AS (P27H)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
Select item 100254	NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys)	VWF (Y1107C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 303	NM_000552.5(VWF):c.2435del (p.Pro812fs)	VWF (P812fs)	Deletion (frameshift variant)	von Willebrand disease type 2 +5 more	GPathogenic
Select item 100208	NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)	VWF (R760C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 305	NM_000552.5(VWF):c.1648G>A (p.Gly550Arg)	VWF (G550R)	Single nucleotide variant (missense variant)	Von Willebrand disease type 2A	GPathogenic
Select item 318	NM_000552.5(VWF):c.1583A>G (p.Asn528Ser)	VWF (N528S)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 100177	NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro)	VWF	Insertion (inframe_insertion)	Von Willebrand disease type 2A	GPathogenic
Select item 1698609	NM_000552.5(VWF):c.824G>C (p.Cys275Ser)	VWF (C275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2921117	NM_000552.5(VWF):c.115G>A (p.Gly39Arg)	VWF (G39R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 17389	NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys)	COL2A1 (Y1391C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 29637	NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)	COL2A1 (T1383M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1326886	NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln)	COL2A1 (L1309Q +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 17373	NM_001844.5(COL2A1):c.3978del (p.Asn1327fs)	COL2A1 (N1258fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1326885	NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg)	COL2A1 (M1248R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 17387	NM_001844.5(COL2A1):c.3914G>A (p.Gly1305Asp)	COL2A1 (G1236D +1 more)	Single nucleotide variant (missense variant)	Vitreoretinopathy with phalangeal epiphyseal dysplasia	GPathogenic
Select item 1326884	NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys)	COL2A1 (W1230C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 446168	NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His)	COL2A1 (D1219H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2429215	NM_005811.5(GDF11):c.379G>A (p.Glu127Lys)	GDF11 (E127K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699178	NM_001845.6(COL4A1):c.94G>A (p.Ala32Thr)	COL4A1 (A32T)	Single nucleotide variant (missense variant)	COL4A1 or COL4A2-related cerebral small vessel disease	GUncertain significance
Select item 1705059	NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)	BMP4 (R182W +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1805464	NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)	BMP4 (F104L +1 more)	Single nucleotide variant (missense variant +1 more)	Orofacial cleft 11	GUncertain significance
Select item 519332	NM_003239.5(TGFB3):c.626G>A (p.Arg209His)	TGFB3 (R209H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 239520	NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)	TGFB3 (S138A)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GConflicting classifications of pathogenicity
Select item 192131	NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)	TGFB3 (S98L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 416061	NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)	TGFB3 (S55N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1764028	NM_000138.5(FBN1):c.8607del (p.Leu2869fs)	FBN1 (L2869fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 520233	NM_000138.5(FBN1):c.8405dup (p.Phe2803fs)	FBN1 (F2803fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 922799	NM_000138.5(FBN1):c.76G>C (p.Asp26His)	FBN1, LOC130057019 (D26H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2