columbia bahamensis - ClinVar - NCBI

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The following term was not found in ClinVar: bahamensis.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916564	NM_198317.3(KLHL17):c.1682C>A (p.Ala561Glu)	KLHL17 (A561E)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 225696	NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	ATAD3A (R528W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 224718	NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)	GNB1 (A326T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 224717	NM_002074.5(GNB1):c.301A>G (p.Met101Val)	GNB1 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute lymphoid leukemia +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 224713	NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)	GNB1 (G77S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 224712	NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)	GNB1 (D76E)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental Disability +7 more	GPathogenic/Likely pathogenic
Select item 224711	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)	GNB1 (D76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 591066	NM_014704.4(CEP104):c.852C>A (p.Tyr284Ter)	CEP104 (Y284*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 562365	NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)	NPHP4 (D1311fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 591671	NM_015102.5(NPHP4):c.3082_3083delinsCT (p.Gly1028Leu)	NPHP4 (G515L +2 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 591069	NM_015102.5(NPHP4):c.2858_2859del (p.Gln953fs)	NPHP4 (Q953fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 562354	NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)	NPHP4 (G860E +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 591589	NM_015102.5(NPHP4):c.1985G>A (p.Trp662Ter)	NPHP4 (W662* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 562366	NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)	NPHP4 (P117fs +2 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 562343	NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs)	NPHP4 (A384fs)	Insertion (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 591866	NM_015102.5(NPHP4):c.1046T>G (p.Val349Gly)	NPHP4 (V349G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 591140	NM_015102.5(NPHP4):c.287A>G (p.Tyr96Cys)	NPHP4 (Y96C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 562355	NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)	NPHP4 (Q45*)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis +2 more	GPathogenic/Likely pathogenic
Select item 591615	NM_001042681.2(RERE):c.3910_3939del (p.Leu1304_Glu1313del)	RERE	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591204	NM_001042681.2(RERE):c.3573_3574insAAGGAGCGGGAGCGGGAG (p.Glu1191_Arg1192insLysGluArgGluArgGlu)	RERE	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 562387	NM_001042681.2(RERE):c.3039dup (p.Pro1014fs)	RERE (P460fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 591072	NM_001042681.2(RERE):c.1618G>T (p.Gly540Cys)	RERE (G540C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591040	NM_001042681.2(RERE):c.1313G>T (p.Trp438Leu)	RERE (W438L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591867	NM_001042681.2(RERE):c.1312T>C (p.Trp438Arg)	RERE (W438R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591115	NM_001042681.2(RERE):c.42CCGGGACCGAGA[3] (p.14DR[6])	RERE	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 88675	NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	PIK3CD (E1021K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +5 more	GPathogenic
Select item 981918	NM_001365951.3(KIF1B):c.2115+6005C>T	KIF1B (P689L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 981892	NM_001365951.3(KIF1B):c.2681C>T (p.Pro894Leu)	KIF1B, LOC126805614 (P848L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 591395	NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp)	PEX14	Microsatellite (inframe_insertion)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 446276	NM_004958.4(MTOR):c.6625C>G (p.Leu2209Val)	MTOR (L2209V)	Single nucleotide variant (missense variant)	Metastatic pancreatic neuroendocrine tumours	GLikely pathogenic
Select item 374796	NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)	MTOR (C1483R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 592020	NM_000302.4(PLOD1):c.84_105dup (p.Lys36delinsPheSerProHisGlyGlyHisTer)	PLOD1	Duplication (nonsense)	not provided	GUncertain significance
Select item 245809	NM_014874.4(MFN2):c.838C>T (p.Arg280Cys)	MFN2 (R280C)	Single nucleotide variant (missense variant)	Multiple system atrophy, cerebellar type +1 more	GLikely pathogenic
Select item 591213	NM_004070.4(CLCNKA):c.73del (p.Cys25fs)	CLCNKA (C25fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591154	NM_004070.4(CLCNKA):c.1333_1334delinsTT (p.Ala445Phe)	LOC106501712, CLCNKA (A445F +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 592047	NM_004070.4(CLCNKA):c.1750_1751del (p.Ser584fs)	CLCNKA, LOC106501712 (S541fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 591103	NM_004070.4(CLCNKA):c.1957del (p.Leu653fs)	LOC106501712, CLCNKA (L652fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 560887	NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val)	CLCNKA, LOC106501712 (G662V +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 591543	NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser)	CLCNKB, LOC106501713 (A206S)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 592045	NM_000085.5(CLCNKB):c.865G>A (p.Gly289Arg)	CLCNKB, LOC106501713 (G289R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591122	NM_000085.5(CLCNKB):c.1391G>C (p.Gly464Ala)	LOC106501713, CLCNKB (G464A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201609	NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	SDHB (R90Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 591278	NM_003000.3(SDHB):c.135_136insACAAGTTGAAACT (p.Arg46delinsThrSerTer)	SDHB	Insertion (nonsense)	not provided	GUncertain significance
Select item 142763	NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	SDHB (R46*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +6 more	GPathogenic
Select item 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GUncertain significance
Select item 591818	NM_000478.6(ALPL):c.610A>G (p.Ile204Val)	ALPL (I204V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 591715	NM_000478.6(ALPL):c.810G>A (p.Trp270Ter)	ALPL (W270* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591139	NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)	ALPL (E332* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia +1 more	GPathogenic
Select item 591537	NM_000478.6(ALPL):c.1373A>G (p.Asp458Gly)	ALPL (D458G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591366	NM_000478.6(ALPL):c.1373_1374delinsGA (p.Asp458Gly)	ALPL (D458G +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 591556	NM_005529.7(HSPG2):c.11716C>T (p.Arg3906Ter)	HSPG2 (R3906* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 592019	NM_005529.7(HSPG2):c.10787G>A (p.Cys3596Tyr)	HSPG2 (C3596Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591409	NM_005529.7(HSPG2):c.7916_7938del (p.Pro2639fs)	HSPG2 (P2639fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591563	NM_005529.7(HSPG2):c.5281CTG[1] (p.Leu1762del)	HSPG2 (L1762del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 592072	NM_005529.7(HSPG2):c.4377C>A (p.Tyr1459Ter)	HSPG2 (Y1459* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591796	NM_005529.7(HSPG2):c.3072_3073del (p.His1025fs)	HSPG2 (H1025fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591081	NM_005529.7(HSPG2):c.428G>A (p.Trp143Ter)	HSPG2 (W143*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591945	NM_030761.5(WNT4):c.346T>C (p.Ser116Pro)	WNT4 (S116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591048	NM_015991.4(C1QA):c.605C>T (p.Ser202Leu)	C1QA (S202L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591697	NM_001009999.3(KDM1A):c.360C>G (p.Tyr120Ter)	KDM1A (Y120*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591790	NM_001009999.3(KDM1A):c.1817T>C (p.Leu606Pro)	KDM1A (L606P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591469	NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)	ARID1A	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 591488	NM_006015.6(ARID1A):c.67G>T (p.Glu23Ter)	ARID1A (E23*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 591383	NM_006015.6(ARID1A):c.114GGC[4] (p.Ala45del)	ARID1A (A45del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 592018	NM_006015.6(ARID1A):c.261_278dup (p.Ala88_Gly93dup)	ARID1A	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 590302	NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)	ADPRS (S177L)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	GLikely pathogenic
Select item 1527936	NM_000310.4(PPT1):c.551A>T (p.Glu184Val)	PPT1 (E184V +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 591308	NM_005857.5(ZMPSTE24):c.574G>A (p.Gly192Arg)	ZMPSTE24 (G192R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981908	NM_001852.4(COL9A2):c.1145G>T (p.Gly382Val)	COL9A2 (G382V)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 592078	NM_148960.3(CLDN19):c.626+15_626+17delinsTGT	CLDN19 (R186C)	Indel (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2575049	NM_000374.5(UROD):c.101G>A (p.Trp34Ter)	UROD (W34*)	Single nucleotide variant (nonsense +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 592026	NM_015506.3(MMACHC):c.689G>C (p.Arg230Pro)	MMACHC (R230P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197107	NM_000098.3(CPT2):c.674G>A (p.Arg225His)	CPT2 (R225H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GConflicting classifications of pathogenicity
Select item 591113	NM_000098.3(CPT2):c.984T>A (p.Asp328Glu)	CPT2 (D328E)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 591609	NM_000098.3(CPT2):c.1654T>C (p.Phe552Leu)	CPT2 (F552L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591305	NM_000098.3(CPT2):c.1675C>G (p.Leu559Val)	CPT2 (L559V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591927	NM_000098.3(CPT2):c.1718T>G (p.Leu573Arg)	CPT2 (L573R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591436	NM_057176.3(BSND):c.413_415del (p.Gln138del)	BSND (Q138del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 633675	NM_181712.5(KANK4):c.1342C>T (p.Arg448Ter)	KANK4 (R448*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 591441	NM_181712.5(KANK4):c.676G>T (p.Glu226Ter)	KANK4 (E226*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2443321	NM_032437.4(EFCAB7):c.830del (p.Gly277fs)	EFCAB7 (G277fs)	Deletion (frameshift variant)	Postaxial polydactyly	GUncertain significance
Select item 2443322	NM_032437.4(EFCAB7):c.1350_1351del	EFCAB7	Microsatellite (splice acceptor variant)	Postaxial polydactyly	GUncertain significance
Select item 663105	NM_002633.3(PGM1):c.87_88del (p.Phe29fs)	LOC129930668, PGM1 (F29fs)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 645088	NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)	PGM1 (A461fs +2 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 591410	NM_000969.5(RPL5):c.302C>G (p.Thr101Ser)	DIPK1A, RPL5 (T101S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 562333	NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu)	COL11A1 (G943E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1527953	NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu)	COL11A1 (P380L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 155897	NM_001854.4(COL11A1):c.781-70T>G	COL11A1	Single nucleotide variant (intron variant)	sporadic abdominal aortic aneurysm	GPathogenic
Select item 560890	NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)	GPSM2 (F46L)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 2674617	NM_013296.5(GPSM2):c.681+1G>A	GPSM2	Single nucleotide variant (splice donor variant)	Chudley-McCullough syndrome	GLikely pathogenic
Select item 35494	NM_013296.5(GPSM2):c.1062+1G>T	GPSM2	Single nucleotide variant (splice donor variant)	not specified +2 more	GPathogenic
Select item 916557	NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser)	CELSR2 (N953S)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 591957	NM_014813.3(LRIG2):c.3G>A (p.Met1Ile)	LRIG2 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 591212	NM_014813.3(LRIG2):c.993del (p.Phe331fs)	LRIG2 (F228fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 562385	NM_014813.3(LRIG2):c.1237G>T (p.Glu413Ter)	LRIG2 (E413* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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