ClinVar for Gene (Select 23451) - ClinVar

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

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344759	NM_012433.4(SF3B1):c.395G>A (p.Arg132His)	SF3B1 (R132H)	Single nucleotide variant (missense variant)	SF3B1-related disorder	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 3160812	NM_012433.4(SF3B1):c.1147C>A (p.Leu383Ile)	SF3B1 (L383I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
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 3041954	NM_012433.4(SF3B1):c.2078-8T>A	SF3B1	Single nucleotide variant (intron variant)	SF3B1-related disorder	GLikely benign
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 3035547	NM_012433.4(SF3B1):c.3096A>G (p.Gln1032=)	SF3B1	Single nucleotide variant (synonymous variant)	SF3B1-related disorder	GLikely benign
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 2589666	NM_012433.4(SF3B1):c.163G>A (p.Val55Met)	SF3B1 (V55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2562621	NM_012433.4(SF3B1):c.550G>A (p.Val184Ile)	SF3B1 (V184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2246875	NM_012433.4(SF3B1):c.1361A>G (p.Lys454Arg)	SF3B1 (K454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1708120	NM_012433.4(SF3B1):c.207C>G (p.Asp69Glu)	SF3B1 (D69E)	Single nucleotide variant (missense variant)	Myelodysplastic syndrome	GUncertain significance
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 1327755	NM_012433.4(SF3B1):c.423A>G (p.Lys141=)	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)	not provided	GBenign
Select item 1228123	NM_012433.4(SF3B1):c.2631T>C (p.Gly877=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 982300	NM_012433.4(SF3B1):c.415+2T>G	SF3B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 917660	NM_012433.4(SF3B1):c.2587C>T (p.Gln863Ter)	SF3B1 (Q863*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
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 791388	NM_012433.4(SF3B1):c.642A>G (p.Lys214=)	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 788089	NM_012433.4(SF3B1):c.666+6T>A	SF3B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788088	NM_012433.4(SF3B1):c.2104C>A (p.Arg702=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788087	NM_012433.4(SF3B1):c.3906T>C (p.Tyr1302=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785855	NM_012433.4(SF3B1):c.3540-8C>T	SF3B1	Single nucleotide variant (intron variant)	not provided	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 771845	NM_012433.4(SF3B1):c.162C>T (p.Tyr54=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 762291	NM_012433.4(SF3B1):c.462T>C (p.Asp154=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733790	NM_012433.4(SF3B1):c.1194A>C (p.Pro398=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717177	NM_012433.4(SF3B1):c.1419A>G (p.Gln473=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715640	NM_012433.4(SF3B1):c.3216T>C (p.Ala1072=)	SF3B1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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)	Adenoid cystic carcinoma +3 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 376532	NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln)	SF3B1 (K666Q)	Single nucleotide variant (missense variant)	Breast neoplasm +3 more	GLikely pathogenic
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 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 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 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 376008	NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu)	SF3B1 (K666E)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely 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 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 376004	NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)	SF3B1 (K700E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic
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 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 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 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 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
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 135243	NM_012433.4(SF3B1):c.967A>G (p.Ile323Val)	SF3B1 (I323V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	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 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	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 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 87