"GeneDx"[submitter] AND "COMT"[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 432854	NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr)	COMT, TXNRD2 (M4T)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 5 +3 more	GUncertain significance
Select item 1208611	NC_000022.11:g.19941868_19941883dup	TXNRD2, COMT +1 more	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 678642	NM_006440.3(TXNRD2):c.-193C>T	COMT, LOC130066962 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185877	NC_000022.11:g.19942002T>C	COMT, LOC130066962 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678640	NM_006440.3(TXNRD2):c.-225T>C	COMT, TXNRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275060	NM_000754.4(COMT):c.1-98A>G	COMT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 256785	NM_000754.4(COMT):c.186C>T (p.His62=)	COMT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 828971	NM_000754.4(COMT):c.219G>A (p.Gln73=)	COMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 829771	NM_000754.4(COMT):c.289+90A>G	COMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256786	NM_000754.4(COMT):c.408C>G (p.Leu136=)	COMT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 828956	NM_000754.4(COMT):c.597G>A (p.Pro199=)	COMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 828955	NM_000754.4(COMT):c.615+75G>C	COMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 829760	NM_000754.4(COMT):c.616-45G>C	ARVCF, COMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256784	NM_000754.4(COMT):c.*10dup	ARVCF, COMT	Duplication (3 prime UTR variant)	not specified +1 more	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