illeal lipid-binding protein - ClinVar

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Items: 40

The following term was not found in ClinVar: illeal.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996913	NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg)	PIK3CA (C844R)	Single nucleotide variant (missense variant)	Cowden syndrome +1 more	GUncertain significance
Select item 217292	NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)	PIK3CA (M1043I)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome +2 more	GPathogenic
Select item 2581652	NM_001386140.1(MTTP):c.2125G>A (p.Gly709Arg)	MTTP (G626R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545492	NM_002039.4(GAB1):c.347G>A (p.Gly116Glu)	GAB1 (G116E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 26	GPathogenic
Select item 3339023	NM_007118.4(TRIO):c.365G>T (p.Arg122Leu)	TRIO (R122L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 65597	NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	TTPA (R221W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 9140	NM_000370.3(TTPA):c.575G>A (p.Arg192His)	TTPA (R192H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2691685	NM_000370.3(TTPA):c.574C>T (p.Arg192Cys)	TTPA (R192C +2 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 363561	NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)	TTPA (R151Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 65592	NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	TTPA (E141K)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	GConflicting classifications of pathogenicity
Select item 65591	NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	TTPA (A120T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1678174	NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter)	APOA5 (Q305*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1204530	NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)	APOA5 (Q275*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 1760482	NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter)	APOA5 (R259*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 1744319	NM_001371904.1(APOA5):c.494dup (p.Val166fs)	APOA5 (V166fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1742314	NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter)	APOA5 (E156*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 1678148	NM_001371904.1(APOA5):c.427del (p.Arg143fs)	APOA5 (R143fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 381733	NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)	APOA5 (Q97*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 1775030	NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter)	APOA5, LOC108491825 (E52*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 1428390	NM_001371904.1(APOA5):c.111del (p.Asp37fs)	LOC108491825, APOA5 (D37fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 17912	NM_000039.3(APOA1):c.664G>A (p.Glu222Lys)	APOA1 (E222K +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2 +2 more	GUncertain significance
Select item 271283	NM_033123.4(PLCZ1):c.1465A>T (p.Ile489Phe)	PIK3C2G, PLCZ1 (I489F +2 more)	Single nucleotide variant (missense variant)	PLCZ1-related disorder	GLikely pathogenic
Select item 829822	NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)	RLBP1 (Y251*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13100	NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)	RLBP1 (R234W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 13101	NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)	RLBP1 (M226K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 281739	NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)	RLBP1 (F182C)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 13097	NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)	RLBP1 (R151Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2501066	NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)	RLBP1 (R151W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 192296	NM_020312.4(COQ9):c.521+1del	COQ9	Deletion (splice donor variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GPathogenic
Select item 855972	NM_001042492.3(NF1):c.1275G>A (p.Trp425Ter)	NF1 (W425*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 68354	NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)	NF1 (I1584V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 426827	NM_001042492.3(NF1):c.4835+1G>T	NF1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 233847	NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)	NF1 (T1627I +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 232671	NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)	NF1 (R1632H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41672	NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)	NF1 (I1658V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 633336	NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr)	NF1 (P1691T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 231040	NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)	NF1 (E1699D +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 478884	NM_000041.4(APOE):c.805C>G (p.Arg269Gly)	APOE (R269G +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia +8 more	GUncertain significance
Select item 30510	NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)	VAPB (T46I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8	GPathogenic
Select item 30193	NM_000631.5(NCF4):c.143_152del (p.Lys48fs)	NCF4, NCF4-AS1 (K48fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	GPathogenic

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Items: 40