"GeneDx"[submitter] AND "SMOC2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 151610	GRCh38/hg38 6q27(chr6:168218779-168460174)x3	DACT2, LOC101929420 +5 more	Copy number gain	See cases	GBenign
Select item 145698	GRCh38/hg38 6q27(chr6:168218779-168595883)x3	DACT2, LOC101929420 +6 more	Copy number gain	See cases	GBenign
Select item 1273584	NM_001166412.2(SMOC2):c.-104C>T	SMOC2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1233812	NM_001166412.2(SMOC2):c.-37A>G	SMOC2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1257770	NM_001166412.2(SMOC2):c.63T>G (p.Ala21=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1280242	NM_001166412.2(SMOC2):c.85-152C>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258153	NM_001166412.2(SMOC2):c.256+254T>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276099	NM_001166412.2(SMOC2):c.257-241G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432363	NM_001166412.2(SMOC2):c.269G>A (p.Cys90Tyr)	SMOC2 (C90Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220598	NM_001166412.2(SMOC2):c.363+81G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253369	NM_001166412.2(SMOC2):c.363+317T>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242901	NM_001166412.2(SMOC2):c.364-83G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286765	NM_001166412.2(SMOC2):c.364-57C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275595	NM_001166412.2(SMOC2):c.463+112C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282166	NM_001166412.2(SMOC2):c.512-261T>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257052	NM_001166412.2(SMOC2):c.562+107G>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231256	NM_001166412.2(SMOC2):c.562+206G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244759	NM_001166412.2(SMOC2):c.562+237C>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287798	NM_001166412.2(SMOC2):c.562+238G>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709829	NM_001166412.2(SMOC2):c.635C>T (p.Ser212Leu)	SMOC2 (S212L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1338958	NM_001166412.2(SMOC2):c.825-9del	SMOC2	Deletion (intron variant)	not provided	GBenign
Select item 1277827	NM_001166412.2(SMOC2):c.908-210G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220795	NM_001166412.2(SMOC2):c.908-195A>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220813	NM_001166412.2(SMOC2):c.1011-101_1011-100insGG	SMOC2	Insertion (intron variant)	not provided	GBenign
Select item 432362	NM_001166412.2(SMOC2):c.1122del (p.Phe375fs)	SMOC2 (F375fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1277203	NM_001166412.2(SMOC2):c.1285+139C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287309	NM_001166412.2(SMOC2):c.1323+142T>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288769	NM_001166412.2(SMOC2):c.1323+291_1323+305del	SMOC2	Deletion (intron variant)	not provided	GBenign
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic

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Items: 31