"Athena Diagnostics"[submitter] AND "CHRNA4"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 579522	NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr)	CHRNA4 (I574T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93428	NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 205003	NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly)	CHRNA4 (V546G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93427	NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 93426	NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 205026	NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr)	CHRNA4 (K439T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 93425	NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +4 more	GBenign
Select item 93424	NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 136758	NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136757	NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 238182	NM_000744.7(CHRNA4):c.876C>T (p.Ile292=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 98338	NM_000744.7(CHRNA4):c.858C>T (p.Thr286=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign/Likely benign
Select item 447036	NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 128750	NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 128749	NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 839252	NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter)	CHRNA4 (Q172*)	Single nucleotide variant (nonsense +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 98325	NM_000744.7(CHRNA4):c.461C>T (p.Pro154Leu)	CHRNA4 (P154L)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 136756	NM_000744.7(CHRNA4):c.402G>A (p.Ala134=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 804690	NM_000744.7(CHRNA4):c.383+1G>A	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 804689	NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile)	CHRNA4, LOC126863087 (T109I)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 377669	NM_000744.7(CHRNA4):c.225C>T (p.Asp75=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 128747	NM_000744.7(CHRNA4):c.189C>T (p.Leu63=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 585663	NM_000744.7(CHRNA4):c.98G>C (p.Arg33Pro)	CHRNA4 (R33P)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 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

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Items: 26