"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CTPS1"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1133843	NM_001905.4(CTPS1):c.222T>C (p.Tyr74=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency +1 more	GLikely benign
Select item 2638724	NM_001905.4(CTPS1):c.304C>T (p.Arg102Trp)	CTPS1 (R102W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2419868	NM_001905.4(CTPS1):c.675A>G (p.Ser225=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency +1 more	GLikely benign
Select item 2638725	NM_001905.4(CTPS1):c.1079A>G (p.Lys360Arg)	CTPS1 (K204R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 640057	NM_001905.4(CTPS1):c.1280C>T (p.Thr427Met)	CTPS1 (T271M +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 720253	NM_001905.4(CTPS1):c.1281G>A (p.Thr427=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2638726	NM_001905.4(CTPS1):c.1683C>G (p.Leu561=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, COL9A2 +20 more	Copy number loss	not provided	GUncertain significance