"GeneDx"[submitter] AND "SHROOM3-AS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	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 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 1238813	NM_020859.4(SHROOM3):c.440T>A (p.Leu147His)	SHROOM3, SHROOM3-AS1 (L147H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1236225	NM_020859.4(SHROOM3):c.587+131T>C	SHROOM3, SHROOM3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403437	NM_020859.4(SHROOM3):c.836G>C (p.Gly279Ala)	SHROOM3-AS1, SHROOM3 (G279A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403439	NM_020859.4(SHROOM3):c.1405C>G (p.Pro469Ala)	SHROOM3, SHROOM3-AS1 (P469A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403440	NM_020859.4(SHROOM3):c.2922G>A (p.Ser974=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403441	NM_020859.4(SHROOM3):c.2983C>T (p.Leu995=)	SHROOM3, SHROOM3-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1288202	NM_020859.4(SHROOM3):c.3753+183T>C	SHROOM3, SHROOM3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278754	NM_020859.4(SHROOM3):c.3828-264C>T	LOC123477767, SHROOM3 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280044	NM_020859.4(SHROOM3):c.3869C>T (p.Pro1290Leu)	SHROOM3, SHROOM3-AS1 (P1290L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1226946	NM_020859.4(SHROOM3):c.4710-217A>G	SHROOM3, SHROOM3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275107	NM_020859.4(SHROOM3):c.4710-44_4710-43insCTC	SHROOM3, SHROOM3-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1241537	NM_020859.4(SHROOM3):c.4710-44T>C	SHROOM3, SHROOM3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249443	NM_020859.4(SHROOM3):c.5198+253C>T	SHROOM3, SHROOM3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244434	NM_020859.4(SHROOM3):c.5623-172T>C	SHROOM3, SHROOM3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign