"Eurofins Ntd Llc (ga)"[submitter] AND "BEST1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497257	NM_004183.4(BEST1):c.55C>T (p.Arg19Cys)	BEST1 (R19C)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 99678	NM_004183.4(BEST1):c.109T>C (p.Leu37=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided +7 more	GBenign
Select item 94870	NM_004183.4(BEST1):c.153-22CCACCC[2]	BEST1	Microsatellite (splice acceptor variant)	not specified +1 more	GBenign
Select item 99691	NM_004183.4(BEST1):c.201G>C (p.Leu67=)	BEST1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +5 more	GBenign
Select item 99693	NM_004183.4(BEST1):c.219C>A (p.Ile73=)	BEST1	Single nucleotide variant (synonymous variant +1 more)	Vitelliform macular dystrophy 2 +7 more	GBenign
Select item 2750	NM_004183.4(BEST1):c.418C>G (p.Leu140Val)	BEST1 (L140V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2740	NM_004183.4(BEST1):c.422G>A (p.Arg141His)	BEST1 (R141H +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis Pigmentosa, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 289316	NM_004183.4(BEST1):c.495G>A (p.Pro165=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 166752	NM_004183.4(BEST1):c.618G>A (p.Leu206=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not specified +6 more	GBenign/Likely benign
Select item 99727	NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)	BEST1 (L207I +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +6 more	GBenign/Likely benign
Select item 99729	NM_004183.4(BEST1):c.624G>A (p.Gln208=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 99732	NM_004183.4(BEST1):c.637-6C>T	BEST1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 99735	NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	BEST1 (R218C +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 166753	NM_004183.4(BEST1):c.715-18TCC[8]	BEST1	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2737	NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	BEST1 (A243V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 198506	NM_004183.4(BEST1):c.797G>A (p.Gly266Asp)	BEST1 (G266D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 166746	NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)	BEST1 (Y284C +2 more)	Single nucleotide variant (missense variant +2 more)	Stargardt disease +2 more	GConflicting classifications of pathogenicity
Select item 166747	NM_004183.4(BEST1):c.1007T>G (p.Met336Arg)	BEST1 (M336R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 99676	NM_004183.4(BEST1):c.1023C>T (p.Pro341=)	BEST1, FTH1 (P409L)	Single nucleotide variant (synonymous variant +2 more)	Retinitis Pigmentosa, Recessive +6 more	GBenign/Likely benign
Select item 289319	NM_004183.4(BEST1):c.1104G>C (p.Leu368=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 193665	NM_004183.4(BEST1):c.1204C>T (p.His402Tyr)	BEST1 (H402Y +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 193666	NM_004183.4(BEST1):c.1410G>A (p.Thr470=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Iron Overload +9 more	GBenign
Select item 193667	NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)	BEST1, FTH1 (V492I +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +6 more	GBenign/Likely benign
Select item 99680	NM_004183.4(BEST1):c.1557C>T (p.Ser519=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinitis Pigmentosa, Recessive +7 more	GBenign
Select item 99682	NM_004183.4(BEST1):c.1608T>C (p.Thr536=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Vitelliform macular dystrophy 2 +7 more	GBenign
Select item 99684	NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)	BEST1, FTH1 (E557K +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +5 more	GConflicting classifications of pathogenicity
Select item 497648	NM_004183.4(BEST1):c.1740-3T>G	BEST1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 193873	NM_004183.4(BEST1):c.1752T>A (p.His584Gln)	BEST1 (H584Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance

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Items: 28