"GeneDx"[submitter] AND "STAC3"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262568	NM_145064.3(STAC3):c.*2C>T	STAC3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 262571	NM_145064.3(STAC3):c.1086G>A (p.Glu362=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 262570	NM_145064.3(STAC3):c.1023G>C (p.Ala341=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy +2 more	GBenign/Likely benign
Select item 1222559	NM_145064.3(STAC3):c.997-24A>G	STAC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301206	NM_145064.3(STAC3):c.997-60_997-58del	STAC3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 262578	NM_145064.3(STAC3):c.996+17A>T	STAC3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 88744	NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	STAC3 (W284S +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2430742	NM_145064.3(STAC3):c.720+44A>G	STAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300778	NM_145064.3(STAC3):c.670+33G>A	STAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262576	NM_145064.3(STAC3):c.604-8C>T	STAC3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1706118	NM_145064.3(STAC3):c.604-28G>A	STAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300462	NM_145064.3(STAC3):c.604-167_604-165dup	STAC3	Duplication (intron variant)	not provided	GLikely benign
Select item 1256727	NM_145064.3(STAC3):c.604-179dup	STAC3	Duplication (intron variant)	not provided	GBenign
Select item 1253792	NM_145064.3(STAC3):c.604-165del	STAC3	Deletion (intron variant)	not provided	GLikely benign
Select item 1295565	NM_145064.3(STAC3):c.604-196G>A	STAC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270767	NM_145064.3(STAC3):c.604-269_604-267del	STAC3	Deletion (intron variant)	not provided	GBenign
Select item 262575	NM_145064.3(STAC3):c.570G>A (p.Lys190=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1241476	NM_145064.3(STAC3):c.506-123G>A	STAC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233295	NM_145064.3(STAC3):c.433-198dup	STAC3	Duplication (intron variant)	not provided	GBenign
Select item 1301223	NM_145064.3(STAC3):c.433-180del	STAC3	Deletion (intron variant)	not provided	GLikely benign
Select item 1300771	NM_145064.3(STAC3):c.433-183_433-180del	STAC3	Deletion (intron variant)	not provided	GLikely benign
Select item 1222074	NM_145064.3(STAC3):c.433-250C>T	STAC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683828	NM_145064.3(STAC3):c.432+143G>A	STAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300844	NM_145064.3(STAC3):c.432+97C>T	STAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249903	NM_145064.3(STAC3):c.432+24_432+25insAAGGTGTAGA	STAC3	Insertion (intron variant)	not provided	GBenign
Select item 262573	NM_145064.3(STAC3):c.355C>T (p.Arg119Cys)	STAC3 (R119C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2579794	NM_145064.3(STAC3):c.317G>T (p.Cys106Phe)	STAC3 (C106F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 534100	NM_145064.3(STAC3):c.221A>G (p.Glu74Gly)	STAC3 (E74G +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy +1 more	GUncertain significance
Select item 465658	NM_145064.3(STAC3):c.157G>A (p.Val53Met)	STAC3 (V53M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1272663	NM_145064.3(STAC3):c.66+30dup	STAC3	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1301005	NM_145064.3(STAC3):c.-1-123G>A	STAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706922	NM_145064.3(STAC3):c.-1-201G>C	STAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283252	NM_145064.3(STAC3):c.-1-266T>C	STAC3	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 33