"Illumina Laboratory Services, Illumina"[submitter] AND "LOC101928008" - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138964	NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val)	LOC101928008, SBF2 (L1098V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 246062	NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)	LOC101928008, SBF2 (T1097N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +5 more	GConflicting classifications of pathogenicity
Select item 306586	NM_030962.4(SBF2):c.3257-5C>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 476922	NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val)	LOC101928008, SBF2 (I1055V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 306587	NM_030962.4(SBF2):c.3111-6T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 448238	NM_030962.4(SBF2):c.3036C>T (p.Thr1012=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GBenign/Likely benign
Select item 306588	NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser)	LOC101928008, SBF2 (P1006S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GUncertain significance
Select item 306589	NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn)	SBF2, LOC101928008 (K1002N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 881441	NM_030962.4(SBF2):c.3003G>A (p.Met1001Ile)	LOC101928008, SBF2 (M1001I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306590	NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu)	SBF2, LOC101928008 (M1001L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 306591	NM_030962.4(SBF2):c.2870C>A (p.Thr957Lys)	LOC101928008, SBF2 (T957K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 881442	NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu)	LOC101928008, SBF2 (K955E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 306592	NM_030962.4(SBF2):c.2850C>T (p.Ile950=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 306593	NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln)	LOC101928008, SBF2 (R890Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 306594	NM_030962.4(SBF2):c.2611-35AATC[4]	LOC101928008, SBF2	Microsatellite (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 881443	NM_030962.4(SBF2):c.2610+11A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GConflicting classifications of pathogenicity
Select item 306595	NM_030962.4(SBF2):c.2600C>T (p.Pro867Leu)	LOC101928008, SBF2 (P867L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306596	NM_030962.4(SBF2):c.2598G>A (p.Pro866=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 306597	NM_030962.4(SBF2):c.2537-5C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance
Select item 306598	NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg)	LOC101928008, SBF2 (K825R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 579244	NM_030962.4(SBF2):c.2457T>G (p.Ile819Met)	LOC101928008, SBF2 (I819M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 580538	NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys)	LOC101928008, SBF2 (N808K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 306599	NM_030962.4(SBF2):c.2397A>G (p.Thr799=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 241609	NM_030962.4(SBF2):c.2337C>T (p.Ser779=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 194989	NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)	LOC101928008, SBF2 (G775S +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 306600	NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)	LOC101928008, SBF2 (Q733E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 306601	NM_030962.4(SBF2):c.2100+7G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2 +1 more	GConflicting classifications of pathogenicity
Select item 306602	NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys)	SBF2, LOC101928008 (E679K +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 306603	NM_030962.4(SBF2):c.1971A>G (p.Val657=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 883049	NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr)	LOC101928008, SBF2 (A633T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 883050	NM_030962.4(SBF2):c.1861-6T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B2	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31