"Ambry Genetics"[submitter] AND "AS3MT"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316904	NM_020682.4(AS3MT):c.218G>T (p.Trp73Leu)	BORCS7-ASMT, AS3MT (W73L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2314650	NM_020682.4(AS3MT):c.220A>G (p.Ile74Val)	AS3MT, BORCS7-ASMT (I74V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547453	NM_020682.4(AS3MT):c.254G>T (p.Cys85Phe)	AS3MT, BORCS7-ASMT (C85F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2315361	NM_020682.4(AS3MT):c.311C>G (p.Thr104Ser)	AS3MT, BORCS7-ASMT (T104S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2593585	NM_020682.4(AS3MT):c.349T>C (p.Tyr117His)	AS3MT, BORCS7-ASMT (Y117H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350017	NM_020682.4(AS3MT):c.355A>G (p.Met119Val)	AS3MT, BORCS7-ASMT (M119V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392150	NM_020682.4(AS3MT):c.556G>A (p.Val186Ile)	AS3MT, BORCS7-ASMT (V186I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2307093	NM_020682.4(AS3MT):c.622G>A (p.Gly208Ser)	AS3MT, BORCS7-ASMT (G208S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130018	NM_020682.4(AS3MT):c.661C>A (p.Gln221Lys)	AS3MT, BORCS7-ASMT (Q221K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2254580	NM_020682.4(AS3MT):c.818T>C (p.Val273Ala)	AS3MT, BORCS7-ASMT (V273A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527775	NM_020682.4(AS3MT):c.835A>G (p.Ile279Val)	AS3MT, BORCS7-ASMT (I279V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2524442	NM_020682.4(AS3MT):c.950A>G (p.Gln317Arg)	AS3MT, BORCS7-ASMT (Q317R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130020	NM_020682.4(AS3MT):c.962T>C (p.Ile321Thr)	AS3MT, BORCS7-ASMT (I321T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130021	NM_020682.4(AS3MT):c.971T>C (p.Ile324Thr)	AS3MT, BORCS7-ASMT (I324T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217367	NM_020682.4(AS3MT):c.1034A>G (p.Asp345Gly)	AS3MT, BORCS7-ASMT +1 more (D345G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance