SFMBT2[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 3341129	NC_000010.11:g.5955208_7871319dup	ATP5F1C, LINC00706 +104 more	Duplication	not provided	GUncertain significance
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 3317845	NM_001387889.1(SFMBT2):c.2644G>A (p.Glu882Lys)	SFMBT2 (E630K +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 3317846	NM_001387889.1(SFMBT2):c.2363C>T (p.Ser788Phe)	SFMBT2 (S788F +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 3317843	NM_001387889.1(SFMBT2):c.1661C>T (p.Ser554Leu)	SFMBT2 (S302L +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 3317844	NM_001387889.1(SFMBT2):c.1415A>G (p.Tyr472Cys)	SFMBT2 (Y472C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3317842	NM_001387889.1(SFMBT2):c.737G>T (p.Cys246Phe)	SFMBT2 (C246F)	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 147511	GRCh38/hg38 10p14(chr10:7290341-7680744)x1	ITIH5, LINC02642 +15 more	Copy number loss	See cases	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 3317847	NM_001387889.1(SFMBT2):c.352G>A (p.Asp118Asn)	SFMBT2 (D118N)	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
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563731	GRCh37/hg19 10p14(chr10:7443156-7768620)x3	ITIH2, ITIH5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 394756	GRCh37/hg19 10p14(chr10:7377293-9129131)x1	ATP5F1C, GATA3 +5 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic

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Items: 87