"GeneDx"[submitter] AND "SBF2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 306569	NM_030962.4(SBF2):c.*177A>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 306571	NM_030962.4(SBF2):c.*51T>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GBenign/Likely benign
Select item 306572	NM_030962.4(SBF2):c.*40A>C	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GBenign
Select item 388939	NM_030962.4(SBF2):c.*20C>G	SBF2, SBF2-AS1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1186723	NM_030962.4(SBF2):c.5452-60C>T	SBF2, SBF2-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669272	NM_030962.4(SBF2):c.5452-165C>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196257	NM_030962.4(SBF2):c.5451+141G>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218486	NM_030962.4(SBF2):c.5451+109C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669271	NM_030962.4(SBF2):c.5451+102T>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421526	NM_030962.4(SBF2):c.5451+10_5451+13dup	LOC105369149, SBF2 +1 more	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 677040	NM_030962.4(SBF2):c.5320-209A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677064	NM_030962.4(SBF2):c.5319+113del	LOC105369149, SBF2 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 676976	NM_030962.4(SBF2):c.5319+52C>T	SBF2, LOC105369149 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383580	NM_030962.4(SBF2):c.5319+7C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 381275	NM_030962.4(SBF2):c.5310A>G (p.Thr1770=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 419286	NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs)	SBF2, SBF2-AS1 +1 more (K1752fs +2 more)	Insertion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1194324	NM_030962.4(SBF2):c.5232-299_5232-298insAAGG	LOC105369149, SBF2 +1 more	Insertion (intron variant)	not provided	GLikely benign
Select item 1199455	NM_030962.4(SBF2):c.5231+113A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513875	NM_030962.4(SBF2):c.5231+19C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 306577	NM_030962.4(SBF2):c.5231+14C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +3 more	GBenign/Likely benign
Select item 220725	NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)	SBF2, SBF2-AS1 +1 more (R1686S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GConflicting classifications of pathogenicity
Select item 386586	NM_030962.4(SBF2):c.5055G>A (p.Ser1685=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 426520	NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp)	LOC105369149, SBF2 +1 more (S1685W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 632177	NM_030962.4(SBF2):c.5041C>T (p.Gln1681Ter)	LOC105369149, SBF2 +1 more (Q1681* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1193879	NM_030962.4(SBF2):c.5038-34A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673451	NM_030962.4(SBF2):c.5038-57CAGT[3]	LOC105369149, SBF2 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1217886	NM_030962.4(SBF2):c.5038-152A>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200808	NM_030962.4(SBF2):c.5037+139C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197692	NM_030962.4(SBF2):c.5037+131G>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385071	NM_030962.4(SBF2):c.5037+12A>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 383688	NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)	SBF2-AS1, LOC105369149 +1 more	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 385721	NM_030962.4(SBF2):c.5034T>C (p.Asp1678=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 1311397	NM_030962.4(SBF2):c.5023C>T (p.Pro1675Ser)	LOC105369149, SBF2 +1 more (P1632S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 216777	NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)	SBF2, SBF2-AS1 +1 more (E1674del +2 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 397621	NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)	SBF2-AS1, LOC105369149 +1 more (K1629del +1 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 4B2 +5 more	GUncertain significance
Select item 306578	NM_030962.4(SBF2):c.5004C>T (p.Thr1668=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +2 more	GConflicting classifications of pathogenicity
Select item 1810525	NM_030962.4(SBF2):c.4998G>T (p.Arg1666Ser)	LOC105369149, SBF2 +1 more (R1623S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138966	NM_030962.4(SBF2):c.4933-15T>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 669270	NM_030962.4(SBF2):c.4933-215G>A	SBF2-AS1, LOC105369149 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669269	NM_030962.4(SBF2):c.4932+224C>T	SBF2-AS1, LOC105369149 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669268	NM_030962.4(SBF2):c.4932+216G>A	LOC105369149, SBF2-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677063	NM_030962.4(SBF2):c.4932+65C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 476935	NM_030962.4(SBF2):c.4809C>T (p.His1603=)	LOC105369149, SBF2 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 566427	NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)	SBF2-AS1, LOC105369149 +1 more (K1602R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 452608	NM_030962.4(SBF2):c.4760C>G (p.Thr1587Ser)	LOC105369149, SBF2 +1 more (T1587S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327667	NM_030962.4(SBF2):c.4719C>A (p.Asn1573Lys)	LOC105369149, SBF2 +1 more (N1530K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 669267	NM_030962.4(SBF2):c.4699-150G>T	SBF2, SBF2-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188807	NM_030962.4(SBF2):c.4699-224C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211376	NM_030962.4(SBF2):c.4698+35A>C	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513271	NM_030962.4(SBF2):c.4698+15C>G	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 381819	NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val)	LOC105369149, SBF2 +1 more (I1565V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3378263	NM_030962.4(SBF2):c.4580T>G (p.Phe1527Cys)	LOC105369149, SBF2 +1 more (F1484C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261940	NM_030962.4(SBF2):c.4571-6C>T	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1196215	NM_030962.4(SBF2):c.4571-163G>A	LOC105369149, SBF2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426528	NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe)	SBF2, SBF2-AS1 (L1521F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 306582	NM_030962.4(SBF2):c.4533A>G (p.Thr1511=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GBenign/Likely benign
Select item 543414	NM_030962.4(SBF2):c.4523G>A (p.Arg1508His)	SBF2, SBF2-AS1 (R1508H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 306583	NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)	SBF2, SBF2-AS1 (R1508C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GUncertain significance
Select item 383330	NM_030962.4(SBF2):c.4509C>T (p.His1503=)	SBF2, SBF2-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 381402	NM_030962.4(SBF2):c.4444-18T>G	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GBenign/Likely benign
Select item 1295498	NM_030962.4(SBF2):c.4444-212dup	SBF2, SBF2-AS1	Duplication (intron variant)	not provided	GBenign
Select item 670545	NM_030962.4(SBF2):c.4443+224C>G	SBF2, SBF2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 245894	NM_030962.4(SBF2):c.4315C>T (p.Gln1439Ter)	SBF2, SBF2-AS1 (Q1439* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 234909	NM_030962.4(SBF2):c.4257+1G>A	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 245864	NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val)	SBF2-AS1, SBF2 (L1386V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 670563	NM_030962.4(SBF2):c.4156-46C>T	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 669265	NM_030962.4(SBF2):c.4156-183T>A	SBF2, SBF2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1186301	NM_030962.4(SBF2):c.4155+191A>G	SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670544	NM_030962.4(SBF2):c.4155+91T>C	SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382124	NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GBenign/Likely benign
Select item 1047558	NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val)	SBF2 (A1333V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 696933	NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu)	SBF2 (V1371L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 306584	NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser)	SBF2 (P1366S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GBenign/Likely benign
Select item 514657	NM_030962.4(SBF2):c.4095C>T (p.Ile1365=)	SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 450437	NM_030962.4(SBF2):c.4070T>C (p.Met1357Thr)	SBF2 (M1357T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518043	NM_030962.4(SBF2):c.4068G>A (p.Leu1356=)	SBF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 577513	NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met)	SBF2 (I1346M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 403857	NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)	SBF2 (V1330A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 385062	NM_030962.4(SBF2):c.3979-4G>T	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 669264	NM_030962.4(SBF2):c.3979-148T>C	SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669263	NM_030962.4(SBF2):c.3979-173G>C	SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220284	NM_030962.4(SBF2):c.3979-256C>T	SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669262	NM_030962.4(SBF2):c.3978+152T>C	SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 374430	NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp)	SBF2 (R1289W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 246374	NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)	SBF2 (I1277M +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 216776	NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)	SBF2 (R1275H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 219812	NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)	SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 573878	NM_030962.4(SBF2):c.3812G>A (p.Arg1271His)	SBF2 (R1271H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 811653	NM_030962.4(SBF2):c.3794-20C>T	SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign
Select item 1215059	NM_030962.4(SBF2):c.3793+235T>A	SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 246568	NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)	SBF2 (S1252C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 1040477	NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr)	SBF2 (H1202Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1189785	NM_030962.4(SBF2):c.3653-76GATA[6]	SBF2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1207540	NM_030962.4(SBF2):c.3653-203T>A	SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669306	NM_030962.4(SBF2):c.3653-233C>T	SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671682	NM_030962.4(SBF2):c.3653-288G>A	SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196879	NM_030962.4(SBF2):c.3652+201T>A	SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669462	NM_030962.4(SBF2):c.3652+9CT[2]	SBF2	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 391342	NM_030962.4(SBF2):c.3652+6C>T	SBF2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity

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