"Ambry Genetics"[submitter] AND "TFB2M"[gene] - ClinVar

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Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176473	NM_022366.3(TFB2M):c.1157A>G (p.Lys386Arg)	TFB2M (K386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176472	NM_022366.3(TFB2M):c.1135C>T (p.Arg379Cys)	TFB2M (R379C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541604	NM_022366.3(TFB2M):c.1050A>G (p.Ile350Met)	TFB2M (I350M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588053	NM_022366.3(TFB2M):c.1018C>T (p.Arg340Cys)	TFB2M (R340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330103	NM_022366.3(TFB2M):c.1006A>G (p.Ile336Val)	TFB2M (I336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274068	NM_022366.3(TFB2M):c.1000A>G (p.Thr334Ala)	TFB2M (T334A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391441	NM_022366.3(TFB2M):c.992G>A (p.Arg331His)	TFB2M (R331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624189	NM_022366.3(TFB2M):c.878A>C (p.Gln293Pro)	TFB2M (Q293P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345612	NM_022366.3(TFB2M):c.830A>C (p.Lys277Thr)	TFB2M (K277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176480	NM_022366.3(TFB2M):c.827G>A (p.Arg276Gln)	TFB2M (R276Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607055	NM_022366.3(TFB2M):c.824C>A (p.Thr275Asn)	TFB2M (T275N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325609	NM_022366.3(TFB2M):c.818T>C (p.Ile273Thr)	TFB2M (I273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597726	NM_022366.3(TFB2M):c.724G>A (p.Gly242Arg)	TFB2M (G242R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3325612	NM_022366.3(TFB2M):c.694A>G (p.Lys232Glu)	TFB2M (K232E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325613	NM_022366.3(TFB2M):c.652T>C (p.Tyr218His)	TFB2M (Y218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325610	NM_022366.3(TFB2M):c.509G>A (p.Arg170Gln)	TFB2M (R170Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538444	NM_022366.3(TFB2M):c.490C>T (p.Pro164Ser)	TFB2M (P164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541926	NM_022366.3(TFB2M):c.334G>A (p.Ala112Thr)	TFB2M (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176478	NM_022366.3(TFB2M):c.293T>C (p.Leu98Pro)	TFB2M (L98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176477	NM_022366.3(TFB2M):c.253G>T (p.Ala85Ser)	TFB2M (A85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176476	NM_022366.3(TFB2M):c.229G>T (p.Asp77Tyr)	TFB2M (D77Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176475	NM_022366.3(TFB2M):c.223G>A (p.Val75Ile)	TFB2M (V75I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530992	NM_022366.3(TFB2M):c.221A>T (p.Tyr74Phe)	TFB2M (Y74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176474	NM_022366.3(TFB2M):c.187A>G (p.Lys63Glu)	LOC129932930, TFB2M (K63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331274	NM_022366.3(TFB2M):c.67T>G (p.Phe23Val)	LOC129932930, TFB2M (F23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235899	NM_022366.3(TFB2M):c.58G>A (p.Ala20Thr)	LOC129932930, TFB2M (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176479	NM_022366.3(TFB2M):c.53C>T (p.Ala18Val)	LOC129932930, TFB2M (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606337	NM_022366.3(TFB2M):c.25C>T (p.Pro9Ser)	LOC129932930, TFB2M (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 28