"GeneDx"[submitter] AND "LOC126863087"[gene] - ClinVar

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Items: 31

	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 1217837	NM_000744.7(CHRNA4):c.383+279G>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178815	NM_000744.7(CHRNA4):c.383+198G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506620	NM_000744.7(CHRNA4):c.383+15_383+32del	CHRNA4, LOC126863087	Microsatellite (splice donor variant)	not specified +1 more	GBenign/Likely benign
Select item 136766	NM_000744.7(CHRNA4):c.383+7C>T	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign
Select item 2749398	NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)	CHRNA4, LOC126863087 (N127S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 954127	NM_000744.7(CHRNA4):c.363G>A (p.Pro121=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 205046	NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp)	CHRNA4, LOC126863087 (R120W)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +3 more	GConflicting classifications of pathogenicity
Select item 477010	NM_000744.7(CHRNA4):c.345C>T (p.Ser115=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 1803400	NM_000744.7(CHRNA4):c.325A>G (p.Thr109Ala)	CHRNA4, LOC126863087 (T109A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 937064	NM_000744.7(CHRNA4):c.311A>C (p.Asp104Ala)	CHRNA4, LOC126863087 (D104A)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 205045	NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)	CHRNA4, LOC126863087 (R99H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 205044	NM_000744.7(CHRNA4):c.283G>A (p.Asp95Asn)	CHRNA4, LOC126863087 (D95N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 205043	NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)	CHRNA4, LOC126863087 (E92Q)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 393060	NM_000744.7(CHRNA4):c.274-13C>G	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1223973	NM_000744.7(CHRNA4):c.274-40C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237828	NM_000744.7(CHRNA4):c.274-63T>G	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232192	NM_000744.7(CHRNA4):c.274-75A>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192834	NM_000744.7(CHRNA4):c.274-136C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206616	NM_000744.7(CHRNA4):c.273+49C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388461	NM_000744.7(CHRNA4):c.273+7G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1202916	NM_000744.7(CHRNA4):c.258C>A (p.Asn86Lys)	CHRNA4, LOC126863087 (N86K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 377670	NM_000744.7(CHRNA4):c.258C>T (p.Asn86=)	LOC126863087, CHRNA4	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 392155	NM_000744.7(CHRNA4):c.255G>A (p.Thr85=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 377110	NM_000744.7(CHRNA4):c.254C>T (p.Thr85Met)	CHRNA4, LOC126863087 (T85M)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 582974	NM_000744.7(CHRNA4):c.229-10G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 386652	NM_000744.7(CHRNA4):c.229-11C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1270871	NM_000744.7(CHRNA4):c.229-26G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238055	NM_000744.7(CHRNA4):c.229-55G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680274	NM_000744.7(CHRNA4):c.229-163T>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 31