SF3B1[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 788087	NM_012433.4(SF3B1):c.3906T>C (p.Tyr1302=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790342	NM_012433.4(SF3B1):c.3867C>T (p.Asn1289=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1250652	NM_012433.4(SF3B1):c.3657A>G (p.Val1219=)	SF3B1	Single nucleotide variant (synonymous variant)	SF3B1-related disorder +1 more	GBenign
Select item 785855	NM_012433.4(SF3B1):c.3540-8C>T	SF3B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2636431	NM_012433.4(SF3B1):c.3235A>G (p.Asn1079Asp)	SF3B1 (N1079D)	Single nucleotide variant (missense variant)	SF3B1-related disorder	GUncertain significance
Select item 715640	NM_012433.4(SF3B1):c.3216T>C (p.Ala1072=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3035547	NM_012433.4(SF3B1):c.3096A>G (p.Gln1032=)	SF3B1	Single nucleotide variant (synonymous variant)	SF3B1-related disorder	GLikely benign
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 3043892	NM_012433.4(SF3B1):c.3013+8A>G	SF3B1	Single nucleotide variant (intron variant)	SF3B1-related disorder	GLikely benign
Select item 3042526	NM_012433.4(SF3B1):c.2931A>G (p.Val977=)	SF3B1	Single nucleotide variant (synonymous variant)	SF3B1-related disorder	GLikely benign
Select item 1228123	NM_012433.4(SF3B1):c.2631T>C (p.Gly877=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 917660	NM_012433.4(SF3B1):c.2587C>T (p.Gln863Ter)	SF3B1 (Q863*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 376530	NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp)	SF3B1 (G742D)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +1 more	GLikely pathogenic
Select item 809134	NM_012433.4(SF3B1):c.2111T>G (p.Ile704Ser)	SF3B1 (I704S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252050	NM_012433.4(SF3B1):c.2107A>C (p.Thr703Pro)	SF3B1 (T703P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 788088	NM_012433.4(SF3B1):c.2104C>A (p.Arg702=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 376041	NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn)	SF3B1 (K700N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376040	NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn)	SF3B1 (K700N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376044	NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr)	SF3B1 (K700T)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376043	NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg)	SF3B1 (K700R)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376042	NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile)	SF3B1 (K700I)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376046	NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln)	SF3B1 (K700Q)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376045	NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter)	SF3B1 (K700*)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GLikely pathogenic
Select item 376004	NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)	SF3B1 (K700E)	Single nucleotide variant (missense variant)	SF3B1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3041954	NM_012433.4(SF3B1):c.2078-8T>A	SF3B1	Single nucleotide variant (intron variant)	SF3B1-related disorder	GLikely benign
Select item 376005	NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn)	SF3B1 (K666N)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GPathogenic/Likely pathogenic
Select item 219098	NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn)	SF3B1 (K666N)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome progressed to acute myeloid leukemia +1 more	GPathogenic/Likely pathogenic
Select item 376007	NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr)	SF3B1 (K666T)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 376006	NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg)	SF3B1 (K666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376532	NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln)	SF3B1 (K666Q)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 376008	NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu)	SF3B1 (K666E)	Single nucleotide variant (missense variant)	B-cell chronic lymphocytic leukemia +4 more	GLikely pathogenic
Select item 376534	NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)	SF3B1 (R625H)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 376536	NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)	SF3B1 (R625G)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 376535	NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)	SF3B1 (R625C)	Single nucleotide variant (missense variant)	B-cell chronic lymphocytic leukemia +3 more	GLikely pathogenic
Select item 717177	NM_012433.4(SF3B1):c.1419A>G (p.Gln473=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2246875	NM_012433.4(SF3B1):c.1361A>G (p.Lys454Arg)	SF3B1 (K454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733790	NM_012433.4(SF3B1):c.1194A>C (p.Pro398=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 777138	NM_012433.4(SF3B1):c.1155T>G (p.Ala385=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3160812	NM_012433.4(SF3B1):c.1147C>A (p.Leu383Ile)	SF3B1 (L383I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135243	NM_012433.4(SF3B1):c.967A>G (p.Ile323Val)	SF3B1 (I323V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3035776	NM_012433.4(SF3B1):c.831G>A (p.Ala277=)	SF3B1	Single nucleotide variant (synonymous variant)	SF3B1-related disorder	GLikely benign
Select item 2547069	NM_012433.4(SF3B1):c.827A>G (p.His276Arg)	SF3B1 (H276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788089	NM_012433.4(SF3B1):c.666+6T>A	SF3B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791388	NM_012433.4(SF3B1):c.642A>G (p.Lys214=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2562621	NM_012433.4(SF3B1):c.550G>A (p.Val184Ile)	SF3B1 (V184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762291	NM_012433.4(SF3B1):c.462T>C (p.Asp154=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1327755	NM_012433.4(SF3B1):c.423A>G (p.Lys141=)	SF3B1	Single nucleotide variant (synonymous variant)	SF3B1-related disorder +1 more	GBenign
Select item 982300	NM_012433.4(SF3B1):c.415+2T>G	SF3B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1708120	NM_012433.4(SF3B1):c.207C>G (p.Asp69Glu)	SF3B1 (D69E)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome	GUncertain significance
Select item 2589666	NM_012433.4(SF3B1):c.163G>A (p.Val55Met)	SF3B1 (V55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771845	NM_012433.4(SF3B1):c.162C>T (p.Tyr54=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1808369	GRCh37/hg19 2q33.1(chr2:197704153-198552092)x3	ANKRD44, COQ10B +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526941	GRCh37/hg19 2q33.1(chr2:198057503-198461454)	ANKRD44, COQ10B +5 more	Copy number gain	not specified	GUncertain significance
Select item 1526940	GRCh37/hg19 2q33.1(chr2:197586481-200793870)	ANKRD44, BOLL +16 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	PGAP1, PLCL1 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 689171	GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1	ANKRD44, BOLL +17 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic

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Items: 86