SF3A1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	LOC130067166, LOC130067167 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 2616324	NM_005877.6(SF3A1):c.1783C>T (p.Pro595Ser)	SF3A1 (P595S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490016	NM_005877.6(SF3A1):c.1703G>A (p.Ser568Asn)	SF3A1 (S568N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391158	NM_005877.6(SF3A1):c.1652A>G (p.Asn551Ser)	SF3A1 (N551S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671887	NM_005877.6(SF3A1):c.1641del (p.Ser548fs)	SF3A1 (S548fs)	Deletion (frameshift variant)	Malignant lymphoma, large B-cell, diffuse	GPathogenic
Select item 2529402	NM_005877.6(SF3A1):c.1634T>G (p.Ile545Ser)	SF3A1 (I545S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619377	NM_005877.6(SF3A1):c.869A>G (p.Asn290Ser)	SF3A1 (N290S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293715	NM_005877.6(SF3A1):c.688A>C (p.Lys230Gln)	SF3A1 (K230Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251949	NM_005877.6(SF3A1):c.670G>T (p.Gly224Cys)	SF3A1 (G224C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777682	NM_005877.6(SF3A1):c.651+8G>C	SF3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2492262	NM_005877.6(SF3A1):c.575A>G (p.Asn192Ser)	SF3A1 (N192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302849	NM_005877.6(SF3A1):c.287A>G (p.His96Arg)	SF3A1 (H96R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653056	NM_005877.6(SF3A1):c.226A>T (p.Ile76Phe)	SF3A1 (I76F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2386437	NM_005877.6(SF3A1):c.29C>T (p.Pro10Leu)	CCDC157, LOC130067209 +1 more (P10L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	SF3A1, SFI1 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	AP1B1, ASCC2 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 36