ClinVar for Gene (Select 6294) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3157512	NM_001201338.2(SAFB):c.2711G>C (p.Arg904Pro)	SAFB (R835P +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2649116	NM_001201338.2(SAFB):c.2628C>T (p.Arg876=)	SAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649115	NM_001201338.2(SAFB):c.2157A>C (p.Arg719=)	SAFB	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 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 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 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 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 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 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ARID3A, ARRDC5 +151 more	Duplication	not provided	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 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 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 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 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 735932	NM_001201338.2(SAFB):c.1155C>T (p.Pro385=)	SAFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688736	GRCh37/hg19 19p13.3(chr19:5513058-5776260)x3	CATSPERD, HSD11B1L +6 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 451975	NM_001201338.2(SAFB):c.2394G>C (p.Trp798Cys)	SAFB (W798C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 50