"Ambry Genetics"[submitter] AND "STT3B"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171702	NM_178862.3(STT3B):c.20C>T (p.Pro7Leu)	LOC129936407, STT3B (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247507	NM_178862.3(STT3B):c.56C>T (p.Pro19Leu)	STT3B (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171696	NM_178862.3(STT3B):c.106C>T (p.Pro36Ser)	LOC129936408, STT3B (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171703	NM_178862.3(STT3B):c.347C>T (p.Ser116Phe)	STT3B (S116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410683	NM_178862.3(STT3B):c.505G>A (p.Val169Ile)	STT3B (V169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301311	NM_178862.3(STT3B):c.505G>C (p.Val169Leu)	STT3B (V169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171704	NM_178862.3(STT3B):c.565A>G (p.Thr189Ala)	STT3B (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314529	NM_178862.3(STT3B):c.673A>G (p.Ile225Val)	STT3B (I225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591183	NM_178862.3(STT3B):c.721G>A (p.Val241Ile)	STT3B (V241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171706	NM_178862.3(STT3B):c.748A>G (p.Met250Val)	STT3B (M250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 651772	NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)	STT3B (C253S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3171707	NM_178862.3(STT3B):c.835G>T (p.Val279Leu)	STT3B (V279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171708	NM_178862.3(STT3B):c.860G>A (p.Ser287Asn)	STT3B (S287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585072	NM_178862.3(STT3B):c.895A>G (p.Ile299Val)	STT3B (I299V)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 3171697	NM_178862.3(STT3B):c.1225A>C (p.Thr409Pro)	STT3B (T409P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171698	NM_178862.3(STT3B):c.1297A>C (p.Ile433Leu)	STT3B (I433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291542	NM_178862.3(STT3B):c.1400T>C (p.Val467Ala)	STT3B (V467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270915	NM_178862.3(STT3B):c.1483G>T (p.Val495Leu)	STT3B (V495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2150766	NM_178862.3(STT3B):c.1562C>T (p.Ala521Val)	STT3B (A521V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2555707	NM_178862.3(STT3B):c.1649T>G (p.Phe550Cys)	STT3B (F550C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363218	NM_178862.3(STT3B):c.1930G>T (p.Ala644Ser)	STT3B (A644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171699	NM_178862.3(STT3B):c.1942A>G (p.Ile648Val)	STT3B (I648V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171701	NM_178862.3(STT3B):c.2092C>T (p.Pro698Ser)	STT3B (P698S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523788	NM_178862.3(STT3B):c.2320G>A (p.Ala774Thr)	STT3B (A774T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 655126	NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser)	STT3B (N789S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2544172	NM_178862.3(STT3B):c.2437C>G (p.Leu813Val)	STT3B (L813V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26