static sibthorpiana - ClinVar - NCBI

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The following term was not found in ClinVar: sibthorpiana.
Showing results for Statice sibthorpiana. Your search for Statice sibthorpiana retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207196	NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)	SLC2A1 (R330*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +6 more	GPathogenic
Select item 16118	NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	SLC2A1 (R126C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 149419	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ACP6, ANKRD34A +133 more	Copy number gain	See cases	GPathogenic
Select item 14498	NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	LMNA (R298C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 383938	NM_198076.6(COX20):c.41A>G (p.Lys14Arg)	LOC129932912, COX20 (K14R)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic
Select item 37006	NC_000001.10:g.7119268_7200395del	CAMTA1	Deletion	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 149115	GRCh38/hg38 2p22.2(chr2:38013370-38232603)x1	CYP1B1, CYP1B1-AS1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 408574	NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala)	SCN1A-AS1, SCN9A (D1948A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely pathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 126422	NM_018297.4(NGLY1):c.1370dup (p.Arg458fs)	NGLY1 (R440fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 66025	NM_015896.4(ZMYND10):c.593_594del (p.Val198fs)	ZMYND10 (V198fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 22	GPathogenic
Select item 2782	NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)	GBE1 (R524Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic/Likely pathogenic
Select item 2585016	NM_003907.3(EIF2B5):c.633G>C (p.Arg211Ser)	EIF2B5 (R211S)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1	GUncertain significance
Select item 372361	NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)	EIF2B5 (R299H)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GPathogenic/Likely pathogenic
Select item 686160	GRCh37/hg19 3p26.3(chr3:858547-1428385)x3	CNTN6	Copy number gain	not provided	GUncertain significance
Select item 686161	GRCh37/hg19 4q32.2(chr4:162605160-162876877)x1	FSTL5	Copy number loss	not provided	GUncertain significance
Select item 6115	NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr)	MOCS2	Single nucleotide variant (stop lost +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 635180	NM_000791.4(DHFR):c.-416C>G	MSH3, DHFR (A60P)	Single nucleotide variant (5 prime UTR variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease +3 more	GBenign/Likely benign
Select item 127078	NM_004598.4(SPOCK1):c.239A>T (p.Asp80Val)	SPOCK1 (D80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561069	NM_022455.5(NSD1):c.4302+1G>A	NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome	GPathogenic
Select item 443607	NCBI36/hg18 6p25.3-22.3(chr6:97634-15840373)x3		Copy number gain	See cases	GPathogenic
Select item 651727	NM_152743.4(BRAT1):c.1130C>A (p.Pro377Gln)	BRAT1 (P202Q +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more	GConflicting classifications of pathogenicity
Select item 36983	NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter)	DNAH11 (S2169*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GPathogenic
Select item 68815	NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	ADAMTS13 (R1060W +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombotic thrombocytopenic purpura +2 more	GPathogenic/Likely pathogenic
Select item 828036	NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr)	GRIN1 (M641T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GLikely pathogenic
Select item 685502	GRCh37/hg19 9p24.1(chr9:6301577-6761300)x3	GLDC, KDM4C +2 more	Copy number gain	not provided	GUncertain significance
Select item 626258	NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys)	SLC25A22 (R273K)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy	GPathogenic
Select item 618891	NM_001191061.2(SLC25A22):c.813_814del (p.Ala272fs)	SLC25A22 (A272fs)	Microsatellite (frameshift variant)	Early myoclonic encephalopathy	GPathogenic
Select item 162202	NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)	PDHX (R446* +2 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 17632	NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C (G406R +1 more)	Single nucleotide variant (missense variant +1 more)	Long qt syndrome 8 +7 more	GPathogenic
Select item 293	NM_000552.5(VWF):c.4196G>A (p.Arg1399His)	VWF (R1399H)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 191276	NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)	ATN1 (H1060Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 619028	NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)	DNM1L (Y691C +7 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +2 more	GPathogenic/Likely pathogenic
Select item 1342138	NM_002868.4(RAB5B):c.406G>C (p.Asp136His)	RAB5B (D136H)	Single nucleotide variant (missense variant +1 more)	RAB5B-associated surfactant dysfunction disorder	GUncertain significance
Select item 881730	NM_021625.5(TRPV4):c.*500C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 307112	NM_021625.5(TRPV4):c.*486T>C	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GBenign
Select item 307113	NM_021625.5(TRPV4):c.*423G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 881334	NM_021625.5(TRPV4):c.*421G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +6 more	GUncertain significance
Select item 881335	NM_021625.5(TRPV4):c.*411A>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 307114	NM_021625.5(TRPV4):c.*405G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more	GUncertain significance
Select item 307115	NM_021625.5(TRPV4):c.*378G>C	TRPV4	Single nucleotide variant (3 prime UTR variant)	Metatropic dysplasia +5 more	GBenign
Select item 307116	NM_021625.5(TRPV4):c.*365C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GBenign
Select item 881386	NM_021625.5(TRPV4):c.*303G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 307117	NM_021625.5(TRPV4):c.*230G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GBenign
Select item 881830	NM_021625.5(TRPV4):c.*227A>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 307118	NM_021625.5(TRPV4):c.*212G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 882982	NM_021625.5(TRPV4):c.*190C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GBenign
Select item 881445	NM_021625.5(TRPV4):c.*145C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 307119	NM_021625.5(TRPV4):c.*99C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 881446	NM_021625.5(TRPV4):c.*83C>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 307120	NM_021625.5(TRPV4):c.*51G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Metatropic dysplasia +5 more	GUncertain significance
Select item 883056	NM_021625.5(TRPV4):c.*2G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 917311	NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GLikely benign
Select item 848074	NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu)	TRPV4 (P823L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1397081	NM_021625.5(TRPV4):c.2605G>T (p.Ala869Ser)	TRPV4 (A822S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 216733	NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)	TRPV4 (A869T +4 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +8 more	GConflicting classifications of pathogenicity
Select item 390789	NM_021625.5(TRPV4):c.2604C>T (p.Asp868=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2692620	NM_021625.5(TRPV4):c.2598T>G (p.Thr866=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 1956517	NM_021625.5(TRPV4):c.2595del (p.Thr866fs)	TRPV4 (T806fs +4 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1380832	NM_021625.5(TRPV4):c.2592G>T (p.Trp864Cys)	TRPV4 (W804C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 504254	NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del)	TRPV4	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 546515	NM_021625.5(TRPV4):c.2585G>A (p.Arg862His)	TRPV4 (R862H +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 1020907	NM_021625.5(TRPV4):c.2584C>T (p.Arg862Cys)	TRPV4 (R755C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 423065	NM_021625.5(TRPV4):c.2584del (p.Arg862fs)	TRPV4 (R755fs +4 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 705765	NM_021625.5(TRPV4):c.2581C>T (p.Pro861Ser)	TRPV4 (P814S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 1714744	NM_021625.5(TRPV4):c.2575G>T (p.Gly859Cys)	TRPV4 (G752C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 536856	NM_021625.5(TRPV4):c.2570A>G (p.Gln857Arg)	TRPV4 (Q857R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1133941	NM_021625.5(TRPV4):c.2568C>T (p.His856=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2764108	NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)	TRPV4 (G795A +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 653472	NM_021625.5(TRPV4):c.2560G>C (p.Asp854His)	TRPV4 (D794H +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 246571	NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)	TRPV4 (D854N +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +6 more	GUncertain significance
Select item 388870	NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1041479	NM_021625.5(TRPV4):c.2558G>A (p.Cys853Tyr)	TRPV4 (C746Y +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 860277	NM_021625.5(TRPV4):c.2555G>A (p.Arg852His)	TRPV4 (R805H +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 857016	NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)	TRPV4 (R745C +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1121326	NM_021625.5(TRPV4):c.2550C>T (p.Asn850=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 1001030	NM_021625.5(TRPV4):c.2550C>A (p.Asn850Lys)	TRPV4 (N743K +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1503503	NM_021625.5(TRPV4):c.2540G>T (p.Ser847Ile)	TRPV4 (S740I +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2036831	NM_021625.5(TRPV4):c.2513_2533del (p.Pro838_Pro844del)	TRPV4	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1409186	NM_021625.5(TRPV4):c.2530C>A (p.Pro844Thr)	TRPV4 (P797T +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2143726	NM_021625.5(TRPV4):c.2526G>A (p.Val842=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2193311	NM_021625.5(TRPV4):c.2523G>A (p.Val841=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 653157	NM_021625.5(TRPV4):c.2521G>A (p.Val841Met)	TRPV4 (V734M +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 137726	NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)	TRPV4 (E840K +4 more)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 307121	NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)	TRPV4	Single nucleotide variant (synonymous variant)	Metatropic dysplasia +6 more	GBenign/Likely benign
Select item 511037	NM_021625.5(TRPV4):c.2514G>A (p.Pro838=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 246488	NM_021625.5(TRPV4):c.2513C>T (p.Pro838Leu)	TRPV4 (P838L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2718128	NM_021625.5(TRPV4):c.2512C>T (p.Pro838Ser)	TRPV4 (P791S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2178971	NM_021625.5(TRPV4):c.2508G>T (p.Ser836=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 415543	NM_021625.5(TRPV4):c.2508G>A (p.Ser836=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GLikely benign
Select item 916992	NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)	TRPV4 (S729L +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 663776	NM_021625.5(TRPV4):c.2499C>A (p.Asn833Lys)	TRPV4 (N726K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 215533	NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)	TRPV4 (N833S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GBenign/Likely benign
Select item 1630565	NM_021625.5(TRPV4):c.2496G>C (p.Leu832=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 581915	NM_021625.5(TRPV4):c.2495T>G (p.Leu832Arg)	TRPV4 (L832R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2040696	NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met)	TRPV4 (L772M +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 580282	NM_021625.5(TRPV4):c.2489T>C (p.Val830Ala)	TRPV4 (V830A +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 1791984	NM_021625.5(TRPV4):c.2485G>C (p.Val829Leu)	TRPV4 (V722L +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 378057	NM_021625.4(TRPV4):c.[2481_2484delCCGC;2486T>A]	TRPV4 (R781fs +9 more)	Deletion (frameshift variant +1 more)	Avascular necrosis of femoral head, primary, 2	GPathogenic
Select item 307122	NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)	TRPV4	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia +8 more	GLikely benign

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