"GeneDx"[submitter] AND "UFD1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 1236720	NM_005659.7(UFD1):c.850-77C>T	UFD1, UFD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264477	NM_005659.7(UFD1):c.850-95T>C	UFD1, UFD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253458	NM_005659.7(UFD1):c.767+32G>A	UFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267996	NM_005659.7(UFD1):c.679-20C>G	UFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253888	NM_005659.7(UFD1):c.678+179C>A	UFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257236	NM_005659.7(UFD1):c.631-24C>T	UFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227804	NM_005659.7(UFD1):c.422+20G>A	UFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250336	NM_005659.7(UFD1):c.292-79C>T	UFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229066	NM_005659.7(UFD1):c.291+53T>C	UFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255296	NM_005659.7(UFD1):c.169+125G>C	UFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247850	NM_005659.7(UFD1):c.3+221C>T	UFD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1261224	NM_005659.7(UFD1):c.3+141G>C	UFD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1246965	NC_000022.11:g.19479241dup	UFD1	Duplication	not provided	GBenign
Select item 1182312	NC_000022.11:g.19479363T>C	UFD1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 253657	GRCh37/hg19 22q11.21(chr22:18894339-20255154)x1	TRMT2A, TSSK2 +26 more	Copy number loss	See cases	GPathogenic
Select item 253589	GRCh37/hg19 22q11.21(chr22:18661724-21025713)x3	ARVCF, C22orf39 +36 more	Copy number gain	See cases	GPathogenic
Select item 253570	GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3	ARVCF, C22orf39 +36 more	Copy number gain	See cases	GPathogenic
Select item 253550	GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3	AIFM3, ARVCF +46 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253416	GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 253401	GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253390	GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253383	GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1	CLTCL1, COMT +43 more	Copy number loss	See cases	GPathogenic

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Items: 26