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

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157493	NM_001201338.2(SAFB):c.11C>T (p.Thr4Ile)	SAFB (T4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307689	NM_001201338.2(SAFB):c.83C>G (p.Thr28Arg)	SAFB (T28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316003	NM_001201338.2(SAFB):c.217G>C (p.Asp73His)	SAFB (D73H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157513	NM_001201338.2(SAFB):c.358C>G (p.Leu120Val)	SAFB (L120V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544618	NM_001201338.2(SAFB):c.419A>G (p.Asp140Gly)	SAFB (D140G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157514	NM_001201338.2(SAFB):c.451G>C (p.Asp151His)	SAFB (D151H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157515	NM_001201338.2(SAFB):c.512T>G (p.Met171Arg)	SAFB (M171R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335463	NM_001201338.2(SAFB):c.523C>G (p.Pro175Ala)	SAFB (P175A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347596	NM_001201338.2(SAFB):c.576A>T (p.Leu192Phe)	SAFB (L35F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316006	NM_001201338.2(SAFB):c.629T>G (p.Leu210Arg)	SAFB (L141R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527093	NM_001201338.2(SAFB):c.1228G>A (p.Val410Ile)	SAFB (V341I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157494	NM_001201338.2(SAFB):c.1342T>C (p.Cys448Arg)	SAFB (C379R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157495	NM_001201338.2(SAFB):c.1531A>G (p.Thr511Ala)	SAFB (T511A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157496	NM_001201338.2(SAFB):c.1565A>C (p.Lys522Thr)	SAFB (K365T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157497	NM_001201338.2(SAFB):c.1614C>A (p.Asp538Glu)	SAFB (D381E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546320	NM_001201338.2(SAFB):c.1619A>G (p.Asp540Gly)	SAFB (D471G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157498	NM_001201338.2(SAFB):c.1691T>C (p.Val564Ala)	SAFB (V495A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261138	NM_001201338.2(SAFB):c.1734A>C (p.Lys578Asn)	SAFB (K578N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157499	NM_001201338.2(SAFB):c.1736C>G (p.Thr579Arg)	SAFB (T422R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316002	NM_001201338.2(SAFB):c.1757C>T (p.Ala586Val)	SAFB (A517V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2567911	NM_001201338.2(SAFB):c.1807G>A (p.Val603Met)	SAFB (V446M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157500	NM_001201338.2(SAFB):c.1808T>C (p.Val603Ala)	SAFB (V534A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157501	NM_001201338.2(SAFB):c.1819A>G (p.Lys607Glu)	SAFB (K607E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157502	NM_001201338.2(SAFB):c.1967G>A (p.Arg656His)	SAFB (R656H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316008	NM_001201338.2(SAFB):c.1987C>T (p.Arg663Cys)	SAFB (R594C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157503	NM_001201338.2(SAFB):c.1990A>C (p.Met664Leu)	SAFB (M663L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157504	NM_001201338.2(SAFB):c.2120G>A (p.Arg707Gln)	SAFB (R638Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157505	NM_001201338.2(SAFB):c.2125G>A (p.Ala709Thr)	SAFB (A708T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264392	NM_001201338.2(SAFB):c.2159A>T (p.Asp720Val)	SAFB (D651V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485623	NM_001201338.2(SAFB):c.2242G>A (p.Asp748Asn)	SAFB (D590N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157506	NM_001201338.2(SAFB):c.2267G>A (p.Arg756His)	SAFB (R598H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157507	NM_001201338.2(SAFB):c.2282C>T (p.Ser761Leu)	SAFB (S692L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157508	NM_001201338.2(SAFB):c.2284G>A (p.Val762Met)	SAFB (V693M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538496	NM_001201338.2(SAFB):c.2396G>A (p.Gly799Glu)	SAFB (G641E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316005	NM_001201338.2(SAFB):c.2411A>T (p.Asp804Val)	SAFB (D803V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157509	NM_001201338.2(SAFB):c.2435G>C (p.Gly812Ala)	SAFB (G654A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316007	NM_001201338.2(SAFB):c.2447C>T (p.Pro816Leu)	SAFB (P658L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550389	NM_001201338.2(SAFB):c.2449C>T (p.Pro817Ser)	SAFB (P659S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157510	NM_001201338.2(SAFB):c.2518G>A (p.Asp840Asn)	SAFB (D682N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549776	NM_001201338.2(SAFB):c.2609G>A (p.Arg870Gln)	SAFB (R868Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518848	NM_001201338.2(SAFB):c.2639C>T (p.Ala880Val)	SAFB (A722V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157511	NM_001201338.2(SAFB):c.2663A>C (p.His888Pro)	SAFB (H885P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157512	NM_001201338.2(SAFB):c.2711G>C (p.Arg904Pro)	SAFB (R835P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 43