"GeneDx"[submitter] AND "LOC100130587"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 58977	GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1	ARFGAP1, BIRC7 +37 more	Copy number loss	See cases	GPathogenic
Select item 668934	NM_000744.7(CHRNA4):c.77-303G>C	CHRNA4, LOC100130587	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 679894	NM_000744.7(CHRNA4):c.76+157T>G	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264503	NM_000744.7(CHRNA4):c.76+95C>T	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136768	NM_000744.7(CHRNA4):c.76+18G>T	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 377668	NM_000744.7(CHRNA4):c.76+14C>A	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign/Likely benign
Select item 851174	NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup)	CHRNA4, LOC100130587	Duplication (inframe_insertion +2 more)	not provided +1 more	GUncertain significance
Select item 447035	NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup)	CHRNA4, LOC100130587	Duplication (inframe_insertion +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 205010	NM_000744.7(CHRNA4):c.53T>G (p.Leu18Arg)	CHRNA4, LOC100130587 (L18R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1307578	NM_000744.7(CHRNA4):c.38_52del (p.Pro13_Leu17del)	CHRNA4, LOC100130587	Deletion (inframe_deletion +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 93430	NM_000744.7(CHRNA4):c.51G>A (p.Leu17=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +4 more	GBenign
Select item 420173	NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup)	CHRNA4, LOC100130587	Duplication (inframe_insertion +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 288991	NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro)	CHRNA4, LOC100130587 (L15P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 379362	NM_000744.7(CHRNA4):c.42G>A (p.Pro14=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 205009	NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu)	LOC100130587, CHRNA4 (P14L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign
Select item 3367257	NM_000744.7(CHRNA4):c.40C>T (p.Pro14Ser)	CHRNA4, LOC100130587 (P14S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 205008	NM_000744.7(CHRNA4):c.38C>G (p.Pro13Arg)	LOC100130587, CHRNA4 (P13R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 128748	NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 655015	NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala)	CHRNA4, LOC100130587 (G7A)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 507342	NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr)	CHRNA4, LOC100130587 (P6T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 205007	NM_000744.7(CHRNA4):c.16C>T (p.Pro6Ser)	CHRNA4, LOC100130587 (P6S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 944850	NM_000744.7(CHRNA4):c.14del (p.Gly5fs)	CHRNA4, LOC100130587 (G5fs)	Deletion (frameshift variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 136767	NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GBenign/Likely benign
Select item 1196712	NM_000744.7(CHRNA4):c.8T>G (p.Leu3Arg)	CHRNA4, LOC100130587 (L3R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1335859	NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr)	CHRNA4, LOC100130587 (M1T)	Single nucleotide variant (missense variant +3 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 205047	NM_000744.7(CHRNA4):c.-1C>T	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 373643	NM_000744.7(CHRNA4):c.-25C>T	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 205006	NM_000744.7(CHRNA4):c.-28C>T	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 506618	NM_000744.7(CHRNA4):c.-30C>A	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384597	NM_000744.7(CHRNA4):c.-39G>A	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1291076	NM_000744.7(CHRNA4):c.-182C>T	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1289592	NM_000744.7(CHRNA4):c.-183C>T	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292309	NC_000020.11:g.63361453T>A	CHRNA4, LOC100130587	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1221644	NC_000020.11:g.63361486A>G	CHRNA4, LOC100130587	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1242103	NC_000020.11:g.63361542G>A	CHRNA4, LOC100130587	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1290249	NC_000020.11:g.63361680C>T	CHRNA4, LOC100130587	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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Items: 37