"GeneDx"[submitter] AND "LOC101928008"[gene] - ClinVar

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Items: 56

	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 1218223	NM_030962.4(SBF2):c.3455+152G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675847	NM_030962.4(SBF2):c.3455+149T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670562	NM_030962.4(SBF2):c.3455+36C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 246179	NM_030962.4(SBF2):c.3451C>T (p.Arg1151Trp)	LOC101928008, SBF2 (R1151W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 448241	NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly)	LOC101928008, SBF2 (R1145G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 138964	NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val)	LOC101928008, SBF2 (L1098V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 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)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 241610	NM_030962.4(SBF2):c.3283A>G (p.Ser1095Gly)	LOC101928008, SBF2 (S1095G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 669259	NM_030962.4(SBF2):c.3256+245T>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
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 220646	NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val)	LOC101928008, SBF2 (I1043V +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	SBF2, LOC101928008	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 1265310	NM_030962.4(SBF2):c.3111-81A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670896	NM_030962.4(SBF2):c.3111-111C>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203388	NM_030962.4(SBF2):c.3110+22T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682408	NM_030962.4(SBF2):c.3087G>A (p.Gln1029=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 246531	NM_030962.4(SBF2):c.3067C>G (p.Gln1023Glu)	LOC101928008, SBF2 (Q1023E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 448238	NM_030962.4(SBF2):c.3036C>T (p.Thr1012=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 509749	NM_030962.4(SBF2):c.3015T>C (p.Tyr1005=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 381028	NM_030962.4(SBF2):c.2937G>A (p.Leu979=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 510809	NM_030962.4(SBF2):c.2934+15A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 389001	NM_030962.4(SBF2):c.2907A>G (p.Gly969=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 306592	NM_030962.4(SBF2):c.2850C>T (p.Ile950=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 669258	NM_030962.4(SBF2):c.2807-210T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206998	NM_030962.4(SBF2):c.2806+201C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 245995	NM_030962.4(SBF2):c.2624G>T (p.Arg875Ile)	LOC101928008, SBF2 (R875I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418588	NM_030962.4(SBF2):c.2611-35AATC[6]	LOC101928008, SBF2	Microsatellite (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 306594	NM_030962.4(SBF2):c.2611-35AATC[4]	SBF2, LOC101928008	Microsatellite (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 672627	NM_030962.4(SBF2):c.2611-84G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197604	NM_030962.4(SBF2):c.2611-221C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191511	NM_030962.4(SBF2):c.2611-252G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 246294	NM_030962.4(SBF2):c.2597C>T (p.Pro866Leu)	SBF2, LOC101928008 (P866L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 672626	NM_030962.4(SBF2):c.2537-209A>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272183	NM_030962.4(SBF2):c.2537-268T>C	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391077	NM_030962.4(SBF2):c.2536+13C>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 306598	NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg)	LOC101928008, SBF2 (K825R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +3 more	GUncertain significance
Select item 1304840	NM_030962.4(SBF2):c.2405G>C (p.Gly802Ala)	LOC101928008, SBF2 (G759A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 670561	NM_030962.4(SBF2):c.2364-94C>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684196	NM_030962.4(SBF2):c.2364-260A>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424459	NM_030962.4(SBF2):c.2362A>T (p.Ser788Cys)	LOC101928008, SBF2 (S788C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426519	NM_030962.4(SBF2):c.2350A>G (p.Ile784Val)	LOC101928008, SBF2 (I784V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 241609	NM_030962.4(SBF2):c.2337C>T (p.Ser779=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +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)	Tip-toe gait +6 more	GConflicting classifications of pathogenicity
Select item 381048	NM_030962.4(SBF2):c.2319G>A (p.Ala773=)	LOC101928008, SBF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B2 +5 more	GLikely benign
Select item 306600	NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)	LOC101928008, SBF2 (Q733E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +4 more	GConflicting classifications of pathogenicity
Select item 1176562	NM_030962.4(SBF2):c.2173C>A (p.Pro725Thr)	SBF2, LOC101928008 (P682T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295491	NM_030962.4(SBF2):c.2101-66del	LOC101928008, SBF2	Deletion (intron variant)	not provided	GBenign
Select item 672842	NM_030962.4(SBF2):c.2100+204C>T	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1021530	NM_030962.4(SBF2):c.2078A>G (p.His693Arg)	LOC101928008, SBF2 (H693R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 306602	NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys)	LOC101928008, SBF2 (E679K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 429748	NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)	LOC101928008, SBF2 (C656S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B2 +5 more	GUncertain significance
Select item 684195	NM_030962.4(SBF2):c.1929+268G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270636	NM_030962.4(SBF2):c.1929+211G>A	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217640	NM_030962.4(SBF2):c.1861-57G>T	SBF2, LOC101928008	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673450	NM_030962.4(SBF2):c.1861-62C>G	LOC101928008, SBF2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 56