"GeneDx"[submitter] AND "SMARCAD1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 1225197	NM_020159.5(SMARCAD1):c.-50+17T>C	SMARCAD1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1243509	NM_020159.5(SMARCAD1):c.190+290G>A	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287784	NM_020159.5(SMARCAD1):c.191-215C>G	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373389	NM_020159.5(SMARCAD1):c.304G>A (p.Val102Ile)	SMARCAD1 (V102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1253074	NM_020159.5(SMARCAD1):c.368+106C>T	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261751	NM_020159.5(SMARCAD1):c.605-61C>T	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283015	NM_020159.5(SMARCAD1):c.705+268G>A	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286948	NM_020159.5(SMARCAD1):c.740G>A (p.Ser247Asn)	SMARCAD1 (S246N +1 more)	Single nucleotide variant (missense variant +1 more)	Keratoderma with scleroatrophy of the extremities +3 more	GBenign
Select item 1220932	NM_020159.5(SMARCAD1):c.902T>C (p.Val301Ala)	SMARCAD1 (V300A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 620664	NM_020159.5(SMARCAD1):c.1281+666dup	SMARCAD1	Duplication (intron variant +1 more)	not provided	GLikely pathogenic
Select item 187776	NM_020159.5(SMARCAD1):c.1281+665G>A	SMARCAD1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1259682	NM_020159.5(SMARCAD1):c.1479A>G (p.Gln493=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	Keratoderma with scleroatrophy of the extremities +3 more	GBenign
Select item 1236001	NM_020159.5(SMARCAD1):c.1839C>T (p.Asp613=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	Adermatoglyphia +3 more	GBenign
Select item 1278346	NM_020159.5(SMARCAD1):c.2083-94C>G	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231263	NM_020159.5(SMARCAD1):c.2608-248G>C	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228927	NM_020159.5(SMARCAD1):c.2608-131G>A	SMARCAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248828	NM_020159.5(SMARCAD1):c.2726+283CAA[5]	SMARCAD1	Microsatellite (intron variant)	not provided	GBenign