struthanthus lehmann - ClinVar - NCBI

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The following term was not found in ClinVar: struthanthus.
Showing results for Struthanthus lehmannii. Your search for Struthanthus lehmannii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203661	NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)	CPT2 (R231W)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GConflicting classifications of pathogenicity
Select item 13220	NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr)	BCHE (A567T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2635464	NM_003722.5(TP63):c.1034G>T (p.Cys345Phe)	TP63 (C166F +3 more)	Single nucleotide variant (missense variant)	TP63-related disorder	GUncertain significance
Select item 6555	NM_001203.3(BMPR1B):c.599T>A (p.Ile200Lys)	BMPR1B (I200K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 6556	NM_001203.3(BMPR1B):c.1456C>T (p.Arg486Trp)	BMPR1B (R486W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6558	NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln)	BMPR1B (R486Q +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related disorder	GLikely pathogenic
Select item 2684440	GRCh37/hg19 6p25.3(chr6:1286450-1645873)x3	FOXC1, FOXF2 +2 more	Copy number gain	not provided	GLikely pathogenic
Select item 17251	NM_000089.4(COL1A2):c.279+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome	GPathogenic
Select item 17539	NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	CLCN1 (I290M)	Single nucleotide variant (missense variant +1 more)	Myotonia +4 more	GPathogenic
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	Smith-Lemli-Opitz syndrome +4 more	GPathogenic/Likely pathogenic
Select item 17538	NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	CLCN1 (Q552R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 524023	NM_000380.4(XPA):c.266_267dup (p.Val90fs)	XPA (V90fs +1 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum group A +1 more	GPathogenic
Select item 1303544	NM_021830.5(TWNK):c.341T>G (p.Met114Arg)	TWNK (M114R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 15143	NM_000518.5(HBB):c.424_426del (p.Leu142del)	LOC110006319, HBB +1 more (L142del)	Deletion (inframe_deletion)	HEMOGLOBIN COVENTRY	Gother
Select item 15298	NM_000518.5(HBB):c.425T>G (p.Leu142Arg)	LOC107133510, LOC110006319 +1 more (L142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15233	NM_000518.5(HBB):c.397A>C (p.Lys133Gln)	HBB, LOC107133510 +1 more (K133Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 15388	NM_000518.5(HBB):c.391T>G (p.Tyr131Asp)	HBB, LOC107133510 +1 more (Y131D)	Single nucleotide variant (missense variant)	HEMOGLOBIN WIEN	Gother
Select item 15228	NM_000518.5(HBB):c.389C>A (p.Ala130Asp)	HBB, LOC107133510 +1 more (A130D)	Single nucleotide variant (missense variant)	HEMOGLOBIN K (CAMEROON) +1 more	Gother
Select item 446745	NM_000518.4(HBB):c.[29C>A;364G>C]	LOC107133510, LOC110006319 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN D (AGRI)	Gother
Select item 446740	NM_000518.4(HBB):c.[280T>C;364G>C]	LOC107133510, LOC110006319 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN CLEVELAND	Gother
Select item 446739	NM_000518.4(HBB):c.[364G>C;79G>A]	LOC107133510, LOC110006319 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN T (CAMBODIA)	Gother
Select item 15152	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	LOC107133510, LOC110006319 +1 more (E122Q)	Single nucleotide variant (missense variant)	Hb SS disease +5 more	GPathogenic/Likely pathogenic
Select item 15329	NM_000518.5(HBB):c.363A>C (p.Lys121Asn)	HBB, LOC107133510 +1 more (K121N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 446743	NM_000518.4(HBB):c.[295G>A;98T>A]	HBB, LOC106099062 +1 more (V99M +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN MEDICINE LAKE	Gother
Select item 15241	NM_000518.5(HBB):c.295G>A (p.Val99Met)	HBB, LOC106099062 +1 more (V99M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 15259	NM_000518.5(HBB):c.294C>R (p.His98Gln)	HBB, LOC106099062 +1 more (H98Q)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 6 +1 more	GPathogenic; other
Select item 15122	NM_000518.5(HBB):c.257T>C (p.Phe86Ser)	LOC106099062, HBB +1 more (F86S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 15522	NM_000518.4(HBB):c.238G>C (p.Asp80His)	LOC107133510, HBB +1 more (D80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15169	NM_000518.4(HBB):c.238G>A (p.Asp80Asn)	LOC107133510, HBB +1 more (D80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15232	NM_000518.5(HBB):c.140G>A (p.Gly47Glu)	LOC107133510, HBB +1 more (G47E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 15288	NM_000518.5(HBB):c.131_139del (p.Glu44_Phe46del)	HBB, LOC106099062 +1 more	Deletion (inframe_deletion)	HEMOGLOBIN NITEROI	Gother
Select item 15042	NM_000519.3(HBD):c.49G>C (p.Gly17Arg)	HBD (G17R)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2)-PRIME +1 more	Gother
Select item 5541	NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	KCNE3, LIPT2 (R83H)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +8 more	GConflicting classifications of pathogenicity
Select item 6521	NM_007035.4(KERA):c.644C>A (p.Thr215Lys)	KERA (T215K)	Single nucleotide variant (missense variant)	Cornea plana 2	GPathogenic
Select item 40566	NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	PTPN11 (Q510E +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 3 +8 more	GPathogenic
Select item 458687	NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	POLG (G426S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 15677	NM_000517.6(HBA2):c.91G>C (p.Glu31Gln)	HBA2, LOC106804612 (E31Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN G (CHINESE) +3 more	Gother
Select item 15636	NM_000517.4(HBA2):c.142G>C (p.Asp48His)	HBA2, LOC106804612 (D48H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15797	NM_000558.5(HBA1):c.46G>C (p.Gly16Arg)	HBA1, LOC106804613 (G16R)	Single nucleotide variant (missense variant)	HEMOGLOBIN SIAM +1 more	Gother
Select item 15746	NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)	HBA1, LOC106804613 (K17E)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 15790	NM_000558.5(HBA1):c.173G>A (p.Gly58Asp)	HBA1, LOC106804613 (G58D)	Single nucleotide variant (missense variant)	HEMOGLOBIN KAGOSHIMA +3 more	Gother
Select item 15778	NM_000558.5(HBA1):c.175C>T (p.His59Tyr)	HBA1, LOC106804613 (H59Y)	Single nucleotide variant (missense variant)	HEMOGLOBIN M (OSAKA) +4 more	Gother
Select item 15779	NM_000558.5(HBA1):c.262C>T (p.His88Tyr)	HBA1, LOC106804613 (H88Y)	Single nucleotide variant (missense variant)	Methemoglobinemia, alpha type	GPathogenic
Select item 15793	NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)	HBA1, LOC106804613 (E117K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 15750	NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)	HBA1, LOC106804613 (A121E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15816	NM_000558.5(HBA1):c.383A>C (p.Lys128Thr)	HBA1, LOC106804613 (K128T)	Single nucleotide variant (missense variant)	HEMOGLOBIN ST. CLAUDE	Gother
Select item 421319	NM_000546.6(TP53):c.992A>G (p.Gln331Arg)	TP53 (Q199R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 6708	NM_005450.6(NOG):c.103C>G (p.Pro35Ala)	NOG (P35A)	Single nucleotide variant (missense variant)	Brachydactyly type B2	GPathogenic
Select item 6703	NM_005450.6(NOG):c.103C>T (p.Pro35Ser)	NOG (P35S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6702	NM_005450.6(NOG):c.499C>G (p.Arg167Gly)	NOG (R167G)	Single nucleotide variant (missense variant)	Brachydactyly type B2	GPathogenic
Select item 16787	NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)	ERCC2 (D681N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 893463	NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)	ERCC2 (R601W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3241411	NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)	ERCC2 (R511Q)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2629746	NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly)	NR0B1 (R425G)	Single nucleotide variant (missense variant)	NR0B1-related disorder	GPathogenic
Select item 1683726	NM_001015877.2(PHF6):c.-47+5G>A	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 11068	NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)	PHF6 (M1T)	Single nucleotide variant (missense variant +1 more)	Borjeson-Forssman-Lehmann syndrome +2 more	GPathogenic
Select item 11072	NM_001015877.2(PHF6):c.27dup (p.Gly10fs)	PHF6 (G10fs)	Duplication (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 11070	NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter)	PHF6 (K8*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 488575	NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)	PHF6 (P11fs)	Duplication (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 623207	NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter)	PHF6 (S22*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 2070527	NM_001015877.2(PHF6):c.84T>C (p.Cys28=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1010319	NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala)	PHF6 (G29A)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1968303	NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)	PHF6 (Q30R)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 375264	NM_001015877.2(PHF6):c.113del (p.Lys38fs)	PHF6 (K38fs)	Deletion (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1440192	NM_001015877.2(PHF6):c.122C>T (p.Ala41Val)	PHF6 (A41V)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 728761	NM_001015877.2(PHF6):c.132G>A (p.Lys44=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 11066	NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr)	PHF6 (C45Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 784910	NM_001015877.2(PHF6):c.138+10C>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 1939400	NM_001015877.2(PHF6):c.138+11C>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 670935	NM_001015877.2(PHF6):c.139-47G>A	PHF6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2897742	NM_001015877.2(PHF6):c.139-15A>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1531078	NM_001015877.2(PHF6):c.139-13del	PHF6	Deletion (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 594571	NM_001015877.2(PHF6):c.139-11_139-7del	PHF6	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 11071	NM_001015877.2(PHF6):c.139-8A>G	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 3075727	NM_001015877.2(PHF6):c.139-2A>G	PHF6	Single nucleotide variant (splice acceptor variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 2502440	NM_001015877.2(PHF6):c.146C>T (p.Ser49Leu)	PHF6 (S49L)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 1718458	NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)	PHF6 (V53L)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 431889	NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser)	PHF6 (N59S)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GUncertain significance
Select item 1339806	NM_001015877.2(PHF6):c.233C>T (p.Thr78Met)	PHF6 (T78M)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2848186	NM_001015877.2(PHF6):c.234G>A (p.Thr78=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 932063	NM_001015877.2(PHF6):c.240+10T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 1965117	NM_001015877.2(PHF6):c.241-18T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2702990	NM_001015877.2(PHF6):c.241-17T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 1266610	NM_001015877.2(PHF6):c.241-13C>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GBenign
Select item 3008860	NM_001015877.2(PHF6):c.241-7G>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1325935	NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala)	PHF6 (S83A)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GUncertain significance
Select item 242879	NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter)	PHF6 (C85*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 2295489	NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)	PHF6 (I92V)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GBenign/Likely benign
Select item 2830599	NM_001015877.2(PHF6):c.294A>C (p.Thr98=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 11064	NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe)	PHF6 (C99F)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 961345	NM_001015877.2(PHF6):c.310C>G (p.His104Asp)	PHF6 (H104D)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GUncertain significance
Select item 2864097	NM_001015877.2(PHF6):c.324A>G (p.Ala108=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1305156	NM_001015877.2(PHF6):c.342A>C (p.Gln114His)	PHF6 (Q114H)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +2 more	GUncertain significance
Select item 2769148	NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter)	PHF6 (R116*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 2434685	NM_001015877.2(PHF6):c.369T>G (p.Ile123Met)	PHF6 (I123M)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 3011946	NM_001015877.2(PHF6):c.374T>A (p.Met125Lys)	PHF6 (M125K)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 96221	NM_001015877.2(PHF6):c.374+8T>C	PHF6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2083828	NM_001015877.2(PHF6):c.374+16_374+20del	PHF6	Deletion (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 2837191	NM_001015877.2(PHF6):c.374+17T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2694340	NM_001015877.2(PHF6):c.374+22_374+26del	PHF6	Deletion (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign

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