"Ambry Genetics"[submitter] AND "HBS1L"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3104421	NM_006620.4(HBS1L):c.1921G>A (p.Ala641Thr)	HBS1L (A599T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104420	NM_006620.4(HBS1L):c.1766A>G (p.Asn589Ser)	HBS1L (N547S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104419	NM_006620.4(HBS1L):c.1709G>A (p.Gly570Asp)	HBS1L (G406D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512873	NM_006620.4(HBS1L):c.1697G>A (p.Cys566Tyr)	HBS1L (C402Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331459	NM_006620.4(HBS1L):c.1648G>A (p.Val550Ile)	HBS1L (V508I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374957	NM_006620.4(HBS1L):c.1642G>A (p.Asp548Asn)	HBS1L (D506N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307132	NM_006620.4(HBS1L):c.1556G>A (p.Arg519Gln)	HBS1L (R355Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204148	NM_006620.4(HBS1L):c.1480G>C (p.Asp494His)	HBS1L (D494H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283583	NM_006620.4(HBS1L):c.1454A>G (p.Asp485Gly)	HBS1L (D321G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104417	NM_006620.4(HBS1L):c.1270A>G (p.Lys424Glu)	HBS1L (K260E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261119	NM_006620.4(HBS1L):c.1160G>A (p.Arg387Gln)	HBS1L (R387Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358742	NM_006620.4(HBS1L):c.1085C>T (p.Ala362Val)	HBS1L (A362V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104416	NM_006620.4(HBS1L):c.1067T>A (p.Ile356Asn)	HBS1L (I192N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533356	NM_006620.4(HBS1L):c.761G>A (p.Arg254Gln)	HBS1L (R254Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283585	NM_006620.4(HBS1L):c.619G>A (p.Asp207Asn)	HBS1L (D165N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481188	NM_006620.4(HBS1L):c.596T>C (p.Ile199Thr)	HBS1L (I199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283584	NM_006620.4(HBS1L):c.515A>G (p.Gln172Arg)	HBS1L (Q172R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394017	NM_006620.4(HBS1L):c.484G>A (p.Val162Ile)	HBS1L (V162I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104425	NM_006620.4(HBS1L):c.452C>T (p.Thr151Ile)	HBS1L (T151I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104423	NM_006620.4(HBS1L):c.436C>G (p.Pro146Ala)	HBS1L (P146A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511849	NM_006620.4(HBS1L):c.341A>C (p.Lys114Thr)	HBS1L (K114T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104422	NM_006620.4(HBS1L):c.197A>G (p.Asn66Ser)	HBS1L (N66S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2265071	NM_006620.4(HBS1L):c.173A>C (p.Tyr58Ser)	HBS1L (Y58S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104418	NM_006620.4(HBS1L):c.148G>A (p.Val50Ile)	HBS1L (V50I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104426	NM_006620.4(HBS1L):c.98C>T (p.Ser33Leu)	HBS1L (S33L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25