SFMBT2[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2273683	NM_001387889.1(SFMBT2):c.2650G>C (p.Val884Leu)	SFMBT2 (V632L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310047	NM_001387889.1(SFMBT2):c.2591A>G (p.Gln864Arg)	SFMBT2 (Q864R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380175	NM_001387889.1(SFMBT2):c.2434G>A (p.Glu812Lys)	SFMBT2 (E560K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313606	NM_001387889.1(SFMBT2):c.2404G>A (p.Glu802Lys)	SFMBT2 (E802K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359714	NM_001387889.1(SFMBT2):c.2347G>A (p.Gly783Arg)	SFMBT2 (G531R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160881	NM_001387889.1(SFMBT2):c.2324C>T (p.Pro775Leu)	SFMBT2 (P775L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239558	NM_001387889.1(SFMBT2):c.2312G>T (p.Arg771Leu)	SFMBT2 (R519L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160880	NM_001387889.1(SFMBT2):c.2311C>T (p.Arg771Cys)	SFMBT2 (R771C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223531	NM_001387889.1(SFMBT2):c.2308G>A (p.Val770Met)	SFMBT2 (V770M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160879	NM_001387889.1(SFMBT2):c.2272C>T (p.Arg758Trp)	SFMBT2 (R506W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160878	NM_001387889.1(SFMBT2):c.2243C>T (p.Ser748Leu)	SFMBT2 (S748L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391048	NM_001387889.1(SFMBT2):c.2213C>G (p.Ser738Cys)	SFMBT2 (S486C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306962	NM_001387889.1(SFMBT2):c.2212T>C (p.Ser738Pro)	SFMBT2 (S738P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357595	NM_001387889.1(SFMBT2):c.2146G>A (p.Gly716Arg)	SFMBT2 (G464R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160877	NM_001387889.1(SFMBT2):c.2125G>A (p.Val709Met)	SFMBT2 (V457M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227600	NM_001387889.1(SFMBT2):c.2102A>G (p.Gln701Arg)	SFMBT2 (Q449R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599085	NM_001387889.1(SFMBT2):c.2098G>A (p.Val700Met)	SFMBT2 (V700M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348637	NM_001387889.1(SFMBT2):c.2098G>C (p.Val700Leu)	SFMBT2 (V448L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464382	NM_001387889.1(SFMBT2):c.2083C>T (p.Arg695Trp)	SFMBT2 (R443W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160876	NM_001387889.1(SFMBT2):c.2081G>A (p.Arg694Gln)	SFMBT2 (R442Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160875	NM_001387889.1(SFMBT2):c.2065G>T (p.Ala689Ser)	SFMBT2 (A437S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160874	NM_001387889.1(SFMBT2):c.2044G>A (p.Asp682Asn)	SFMBT2 (D430N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160873	NM_001387889.1(SFMBT2):c.1925C>T (p.Pro642Leu)	SFMBT2 (P642L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292278	NM_001387889.1(SFMBT2):c.1912A>C (p.Asn638His)	SFMBT2 (N386H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259223	NM_001387889.1(SFMBT2):c.1904G>C (p.Cys635Ser)	SFMBT2 (C383S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160872	NM_001387889.1(SFMBT2):c.1850G>A (p.Arg617Gln)	SFMBT2 (R617Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160871	NM_001387889.1(SFMBT2):c.1846G>A (p.Val616Ile)	SFMBT2 (V616I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394003	NM_001387889.1(SFMBT2):c.1810T>C (p.Tyr604His)	SFMBT2 (Y352H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598594	NM_001387889.1(SFMBT2):c.1681G>A (p.Val561Met)	SFMBT2 (V561M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391872	NM_001387889.1(SFMBT2):c.1564G>A (p.Val522Ile)	SFMBT2 (V522I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777840	NM_001387889.1(SFMBT2):c.1487+8C>T	SFMBT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3160870	NM_001387889.1(SFMBT2):c.1363G>A (p.Asp455Asn)	SFMBT2 (D455N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537473	NM_001387889.1(SFMBT2):c.1358T>C (p.Ile453Thr)	SFMBT2 (I201T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160869	NM_001387889.1(SFMBT2):c.1288G>A (p.Val430Ile)	SFMBT2 (V178I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561280	NM_001387889.1(SFMBT2):c.1213A>G (p.Ser405Gly)	SFMBT2 (S153G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290410	NM_001387889.1(SFMBT2):c.1171G>A (p.Ala391Thr)	SFMBT2 (A391T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485195	NM_001387889.1(SFMBT2):c.1130G>A (p.Gly377Asp)	SFMBT2 (G377D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640292	NM_001387889.1(SFMBT2):c.1104C>T (p.Ser368=)	SFMBT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160883	NM_001387889.1(SFMBT2):c.934T>C (p.Cys312Arg)	SFMBT2 (C312R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234618	NM_001387889.1(SFMBT2):c.910A>G (p.Met304Val)	SFMBT2 (M304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712041	NM_001387889.1(SFMBT2):c.877G>A (p.Ala293Thr)	SFMBT2 (A293T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2283257	NM_001387889.1(SFMBT2):c.746A>G (p.Asn249Ser)	SFMBT2 (N249S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160882	NM_001387889.1(SFMBT2):c.673G>A (p.Asp225Asn)	SFMBT2 (D225N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351032	NM_001387889.1(SFMBT2):c.361T>A (p.Cys121Ser)	SFMBT2 (C121S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548930	NM_001387889.1(SFMBT2):c.296C>T (p.Thr99Met)	SFMBT2 (T99M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594969	NM_001387889.1(SFMBT2):c.215G>A (p.Ser72Asn)	SFMBT2 (S72N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291827	NM_001387889.1(SFMBT2):c.128G>T (p.Gly43Val)	SFMBT2 (G43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160868	NM_001387889.1(SFMBT2):c.113G>T (p.Ser38Ile)	SFMBT2 (S38I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364898	NM_001387889.1(SFMBT2):c.32A>C (p.Gln11Pro)	SFMBT2 (Q11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297555	NM_001387889.1(SFMBT2):c.26A>G (p.Asn9Ser)	SFMBT2 (N9S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50