"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TXNRD2"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 389754	NM_006440.5(TXNRD2):c.1509G>A (p.Glu503=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 263784	NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser)	TXNRD2 (G384S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 414281	NM_006440.5(TXNRD2):c.1077C>T (p.Asp359=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 240658	NM_006440.5(TXNRD2):c.933C>T (p.Thr311=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 699192	NM_006440.5(TXNRD2):c.264C>T (p.Asn88=)	TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 454282	NM_006440.5(TXNRD2):c.199G>A (p.Val67Met)	TXNRD2 (V67M +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	FAM230A, GGT2 +46 more	Copy number loss	not provided	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	DGCR8, AIFM3 +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	MED15, MRPL40 +45 more	Copy number loss	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	RTN4R, SERPIND1 +45 more	Copy number gain	not provided	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	FAM230A, GGTLC3 +45 more	Copy number loss	not provided	GPathogenic