SAFB2[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 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 157428	Single allele	LOC111828495, SAFB2 +1 more	Deletion	Preeclampsia	Gnot provided
Select item 2366823	NM_014649.3(SAFB2):c.2851C>T (p.Arg951Cys)	SAFB2 (R951C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245876	NM_014649.3(SAFB2):c.2827C>G (p.Pro943Ala)	SAFB2 (P943A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316013	NM_014649.3(SAFB2):c.2802C>A (p.Ser934Arg)	SAFB2 (S934R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157524	NM_014649.3(SAFB2):c.2797G>C (p.Gly933Arg)	SAFB2 (G933R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316016	NM_014649.3(SAFB2):c.2795G>T (p.Arg932Leu)	SAFB2 (R932L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316010	NM_014649.3(SAFB2):c.2794C>T (p.Arg932Trp)	SAFB2 (R932W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602421	NM_014649.3(SAFB2):c.2776G>A (p.Gly926Arg)	SAFB2 (G926R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272461	NM_014649.3(SAFB2):c.2708G>C (p.Arg903Pro)	SAFB2 (R903P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535586	NM_014649.3(SAFB2):c.2704G>T (p.Gly902Trp)	SAFB2 (G902W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508548	NM_014649.3(SAFB2):c.2680A>G (p.Met894Val)	SAFB2 (M894V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223753	NM_014649.3(SAFB2):c.2665T>G (p.Ser889Ala)	SAFB2 (S889A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316011	NM_014649.3(SAFB2):c.2579G>A (p.Arg860His)	SAFB2 (R860H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511423	NM_014649.3(SAFB2):c.2578C>T (p.Arg860Cys)	SAFB2 (R860C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603267	NM_014649.3(SAFB2):c.2558G>A (p.Arg853Gln)	SAFB2 (R853Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287507	NM_014649.3(SAFB2):c.2540G>C (p.Trp847Ser)	SAFB2 (W847S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296802	NM_014649.3(SAFB2):c.2534G>A (p.Arg845His)	SAFB2 (R845H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375065	NM_014649.3(SAFB2):c.2470G>T (p.Gly824Cys)	SAFB2 (G824C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329787	NM_014649.3(SAFB2):c.2470G>A (p.Gly824Ser)	SAFB2 (G824S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479493	NM_014649.3(SAFB2):c.2467G>C (p.Gly823Arg)	SAFB2 (G823R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222735	NM_014649.3(SAFB2):c.2465G>C (p.Trp822Ser)	SAFB2 (W822S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157523	NM_014649.3(SAFB2):c.2455C>T (p.Arg819Cys)	SAFB2 (R819C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157522	NM_014649.3(SAFB2):c.2451C>A (p.Asp817Glu)	SAFB2 (D817E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460451	NM_014649.3(SAFB2):c.2438G>A (p.Arg813His)	SAFB2 (R813H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218867	NM_014649.3(SAFB2):c.2437C>T (p.Arg813Cys)	SAFB2 (R813C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280086	NM_014649.3(SAFB2):c.2419C>G (p.His807Asp)	SAFB2 (H807D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275844	NM_014649.3(SAFB2):c.2411G>A (p.Arg804His)	SAFB2 (R804H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219293	NM_014649.3(SAFB2):c.2396A>T (p.His799Leu)	SAFB2 (H799L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210904	NM_014649.3(SAFB2):c.2387A>T (p.Asp796Val)	SAFB2 (D796V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274305	NM_014649.3(SAFB2):c.2356G>A (p.Gly786Ser)	SAFB2 (G786S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344404	NM_014649.3(SAFB2):c.2318G>A (p.Arg773Gln)	SAFB2 (R773Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316009	NM_014649.3(SAFB2):c.2305G>C (p.Asp769His)	SAFB2 (D769H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412231	NM_014649.3(SAFB2):c.2278C>T (p.Arg760Trp)	SAFB2 (R760W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405976	NM_014649.3(SAFB2):c.2267C>T (p.Ala756Val)	SAFB2 (A756V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316012	NM_014649.3(SAFB2):c.2264G>A (p.Arg755His)	SAFB2 (R755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212075	NM_014649.3(SAFB2):c.2240G>A (p.Arg747His)	SAFB2 (R747H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157521	NM_014649.3(SAFB2):c.2222A>G (p.Tyr741Cys)	SAFB2 (Y741C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590956	NM_014649.3(SAFB2):c.2186G>A (p.Arg729Gln)	SAFB2 (R729Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157520	NM_014649.3(SAFB2):c.2177G>A (p.Arg726Gln)	SAFB2 (R726Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412043	NM_014649.3(SAFB2):c.2173C>T (p.Arg725Trp)	SAFB2 (R725W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604369	NM_014649.3(SAFB2):c.2168A>T (p.Gln723Leu)	SAFB2 (Q723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157519	NM_014649.3(SAFB2):c.2154G>C (p.Gln718His)	SAFB2 (Q718H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224015	NM_014649.3(SAFB2):c.2116C>A (p.His706Asn)	SAFB2 (H706N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333521	NM_014649.3(SAFB2):c.2078G>A (p.Arg693His)	SAFB2 (R693H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157518	NM_014649.3(SAFB2):c.2047G>A (p.Glu683Lys)	SAFB2 (E683K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467698	NM_014649.3(SAFB2):c.2044A>C (p.Met682Leu)	SAFB2 (M682L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295213	NM_014649.3(SAFB2):c.1982C>T (p.Ala661Val)	SAFB2 (A661V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213235	NM_014649.3(SAFB2):c.1925G>A (p.Arg642His)	SAFB2 (R642H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157517	NM_014649.3(SAFB2):c.1798G>A (p.Asp600Asn)	SAFB2 (D600N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215602	NM_014649.3(SAFB2):c.1769G>C (p.Arg590Thr)	SAFB2 (R590T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569735	NM_014649.3(SAFB2):c.1753G>C (p.Val585Leu)	SAFB2 (V585L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229503	NM_014649.3(SAFB2):c.1753G>A (p.Val585Met)	SAFB2 (V585M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316014	NM_014649.3(SAFB2):c.1730C>G (p.Ser577Trp)	SAFB2 (S577W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157516	NM_014649.3(SAFB2):c.1491G>C (p.Glu497Asp)	SAFB2 (E497D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343675	NM_014649.3(SAFB2):c.1382C>T (p.Ala461Val)	SAFB2 (A461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161679	NM_014649.3(SAFB2):c.1367C>T (p.Ser456Leu)	SAFB2 (S456L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2210210	NM_014649.3(SAFB2):c.1322A>G (p.Asn441Ser)	SAFB2 (N441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390804	NM_014649.3(SAFB2):c.1220G>A (p.Arg407Gln)	SAFB2 (R407Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257429	NM_014649.3(SAFB2):c.1169T>C (p.Ile390Thr)	SAFB2 (I390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157530	NM_014649.3(SAFB2):c.605C>T (p.Pro202Leu)	SAFB2 (P202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345434	NM_014649.3(SAFB2):c.596A>G (p.Lys199Arg)	SAFB2 (K199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157529	NM_014649.3(SAFB2):c.592T>G (p.Phe198Val)	SAFB2 (F198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301585	NM_014649.3(SAFB2):c.521C>T (p.Pro174Leu)	SAFB2 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394999	NM_014649.3(SAFB2):c.470A>G (p.Asp157Gly)	SAFB2 (D157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375748	NM_014649.3(SAFB2):c.469G>A (p.Asp157Asn)	SAFB2 (D157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616393	NM_014649.3(SAFB2):c.433C>T (p.Pro145Ser)	SAFB2 (P145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157528	NM_014649.3(SAFB2):c.426C>G (p.Ser142Arg)	SAFB2 (S142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359450	NM_014649.3(SAFB2):c.373A>G (p.Asn125Asp)	SAFB2 (N125D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251648	NM_014649.3(SAFB2):c.367C>A (p.Leu123Met)	SAFB2 (L123M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528070	NM_014649.3(SAFB2):c.344A>C (p.Asp115Ala)	SAFB2 (D115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157527	NM_014649.3(SAFB2):c.314T>C (p.Leu105Pro)	SAFB2 (L105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157526	NM_014649.3(SAFB2):c.310G>A (p.Gly104Ser)	SAFB2 (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157525	NM_014649.3(SAFB2):c.299C>G (p.Thr100Arg)	SAFB2 (T100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244059	NM_014649.3(SAFB2):c.281A>T (p.Lys94Met)	SAFB2 (K94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264368	NM_014649.3(SAFB2):c.227T>C (p.Ile76Thr)	SAFB2 (I76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347028	NM_014649.3(SAFB2):c.11C>G (p.Thr4Ser)	SAFB2 (T4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307196	NM_014649.3(SAFB2):c.11C>T (p.Thr4Ile)	SAFB2 (T4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
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 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 86