"Ambry Genetics"[submitter] AND "BORCS7-ASMT"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2290258	NM_001136200.2(BORCS7):c.77C>A (p.Thr26Asn)	BORCS7-ASMT, BORCS7 (T26N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2346889	NM_001136200.2(BORCS7):c.292C>G (p.Gln98Glu)	BORCS7, BORCS7-ASMT (Q98E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314650	NM_020682.4(AS3MT):c.220A>G (p.Ile74Val)	BORCS7-ASMT, AS3MT (I74V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2315361	NM_020682.4(AS3MT):c.311C>G (p.Thr104Ser)	BORCS7-ASMT, AS3MT (T104S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2307093	NM_020682.4(AS3MT):c.622G>A (p.Gly208Ser)	BORCS7-ASMT, AS3MT (G208S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254580	NM_020682.4(AS3MT):c.818T>C (p.Val273Ala)	BORCS7-ASMT, AS3MT (V273A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2217367	NM_020682.4(AS3MT):c.1034A>G (p.Asp345Gly)	BORCS7-ASMT, LOC107984265 +1 more (D345G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance