"Ambry Genetics"[submitter] AND "HBA-LCR"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1004949	NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe)	HBA-LCR, NPRL3 (L260F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 542796	NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu)	HBA-LCR, NPRL3 (P398L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1439849	NM_001077350.3(NPRL3):c.1265G>A (p.Arg422His)	HBA-LCR, NPRL3 (R243H +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 476218	NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys)	HBA-LCR, NPRL3 (E418K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +2 more	GConflicting classifications of pathogenicity
Select item 476217	NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro)	HBA-LCR, NPRL3 (S390P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 843565	NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys)	HBA-LCR, NPRL3 (Y230C +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1147433	NM_001077350.3(NPRL3):c.1163C>T (p.Thr388Ile)	HBA-LCR, NPRL3 (T209I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1016117	NM_001077350.3(NPRL3):c.1145C>T (p.Ala382Val)	HBA-LCR, NPRL3 (A203V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 934907	NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu)	HBA-LCR, NPRL3 (P284L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 854751	NM_001077350.3(NPRL3):c.1048G>A (p.Glu350Lys)	HBA-LCR, NPRL3 (E171K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 476231	NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile)	HBA-LCR, NPRL3 (V333I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2550126	NM_001077350.3(NPRL3):c.863C>T (p.Thr288Ile)	HBA-LCR, NPRL3 (T288I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 2270861	NM_001077350.3(NPRL3):c.790C>T (p.Leu264Phe)	HBA-LCR, NPRL3 (L186F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 657645	NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro)	HBA-LCR, NPRL3 (L174P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 945767	NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln)	HBA-LCR, NPRL3 (R193Q +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +2 more	GConflicting classifications of pathogenicity
Select item 2398578	NM_001077350.3(NPRL3):c.646G>A (p.Val216Ile)	HBA-LCR, NPRL3 (V138I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 659430	NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp)	HBA-LCR, NPRL3 (C212W +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 2314114	NM_001077350.3(NPRL3):c.614A>T (p.Lys205Met)	HBA-LCR, NPRL3 (K127M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 655643	NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn)	HBA-LCR, NPRL3 (K20N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2279701	NM_001077350.3(NPRL3):c.510C>G (p.Ile170Met)	HBA-LCR, NPRL3 (I145M +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 835740	NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)	HBA-LCR, NPRL3 (R123C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1470206	NM_001077350.3(NPRL3):c.440G>A (p.Arg147His)	HBA-LCR, NPRL3 (R122H +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 574970	NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys)	HBA-LCR, NPRL3 (R147C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3 +2 more	GConflicting classifications of pathogenicity
Select item 1438632	NM_001077350.3(NPRL3):c.428A>G (p.His143Arg)	HBA-LCR, NPRL3 (H118R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 2042830	NM_001077350.3(NPRL3):c.269A>G (p.Asn90Ser)	HBA-LCR, NPRL3 (N12S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3201781	NM_001077350.3(NPRL3):c.166G>A (p.Asp56Asn)	HBA-LCR, NPRL3 (D56N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 645237	NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu)	HBA-LCR, NPRL3 (P42L)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3 +2 more	GUncertain significance
Select item 2645772	NM_001077350.3(NPRL3):c.106G>A (p.Ala36Thr)	HBA-LCR, NPRL3 (A36T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3201782	NM_001077350.3(NPRL3):c.28G>A (p.Val10Met)	HBA-LCR, NPRL3 (V10M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 655561	NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile)	HBA-LCR, NPRL3 (T5I)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity

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Items: 30