ClinVar for MedGen (Select 863054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023749	NM_001905.4(CTPS1):c.439-17C>A	CTPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 3023417	NM_001905.4(CTPS1):c.1296+15T>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 3022672	NM_001905.4(CTPS1):c.1060T>C (p.Tyr354His)	CTPS1 (Y198H +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 3020098	NM_001905.4(CTPS1):c.1020G>A (p.Ala340=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 3015428	NM_001905.4(CTPS1):c.1757del (p.Pro586fs)	CTPS1 (P586fs +1 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 3007961	NM_001905.4(CTPS1):c.555G>A (p.Gln185=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 3006027	NM_001905.4(CTPS1):c.640-15G>T	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 3006026	NM_001905.4(CTPS1):c.166+15T>G	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 3005611	NM_001905.4(CTPS1):c.1098A>C (p.Gly366=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 3004388	NM_001905.4(CTPS1):c.453G>C (p.Val151=)	CTPS1	Single nucleotide variant (5 prime UTR variant +2 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2999129	NM_001905.4(CTPS1):c.1006-19C>T	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2993362	NM_001905.4(CTPS1):c.1394-6del	CTPS1	Deletion (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GBenign
Select item 2989701	NM_001905.4(CTPS1):c.1610C>T (p.Ser537Phe)	CTPS1 (S381F +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2980566	NM_001905.4(CTPS1):c.1094+9A>G	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2976755	NM_001905.4(CTPS1):c.1393+9T>G	CTPS1, LOC126805717	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2963232	NM_001905.4(CTPS1):c.556-7G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2956982	NM_001905.4(CTPS1):c.450C>T (p.Thr150=)	CTPS1	Single nucleotide variant (5 prime UTR variant +2 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2956790	NM_001905.4(CTPS1):c.1547A>G (p.Asp516Gly)	CTPS1 (D516G +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2917112	NM_001905.4(CTPS1):c.1546+11G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2907245	NM_001905.4(CTPS1):c.666T>C (p.Leu222=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2886527	NM_001905.4(CTPS1):c.1190-10del	CTPS1	Deletion (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GBenign
Select item 2879907	NM_001905.4(CTPS1):c.99T>C (p.His33=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2875114	NM_001905.4(CTPS1):c.1190-18T>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2865055	NM_001905.4(CTPS1):c.399A>T (p.Val133=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2858253	NM_001905.4(CTPS1):c.711G>A (p.Glu237=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2844104	NM_001905.4(CTPS1):c.1398A>C (p.Lys466Asn)	CTPS1 (K310N +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2827818	NM_001905.4(CTPS1):c.162G>A (p.Glu54=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2827750	NM_001905.4(CTPS1):c.561T>C (p.Ser187=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2825489	NM_001905.4(CTPS1):c.963G>A (p.Leu321=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2818622	NM_001905.4(CTPS1):c.1436G>T (p.Arg479Leu)	CTPS1 (R323L +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2809715	NM_001905.4(CTPS1):c.198A>G (p.Glu66=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2801278	NM_001905.4(CTPS1):c.555+15G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2799975	NM_001905.4(CTPS1):c.1336G>A (p.Gly446Arg)	CTPS1, LOC126805717 (G446R +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2798277	NM_001905.4(CTPS1):c.1190-6T>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2794279	NM_001905.4(CTPS1):c.1449+11C>T	CTPS1	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2792694	NM_001905.4(CTPS1):c.555+11C>T	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2790539	NM_001905.4(CTPS1):c.1190-18T>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2789913	NM_001905.4(CTPS1):c.1041G>T (p.Ser347=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2787629	NM_001905.4(CTPS1):c.438+14C>T	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2786883	NM_001905.4(CTPS1):c.555+12A>G	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2779218	NM_001905.4(CTPS1):c.167-13C>T	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2769510	NM_001905.4(CTPS1):c.720+10A>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2766989	NM_001905.4(CTPS1):c.434T>C (p.Ile145Thr)	CTPS1 (I145T)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2762831	NM_001905.4(CTPS1):c.1296+12G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2749837	NM_001905.4(CTPS1):c.1434C>T (p.His478=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2744563	NM_001905.4(CTPS1):c.1095-6G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2742649	NM_001905.4(CTPS1):c.411C>T (p.Gly137=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2742453	NM_001905.4(CTPS1):c.720+17A>G	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2739997	NM_001905.4(CTPS1):c.640-12C>G	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2733397	NM_001905.4(CTPS1):c.338-16G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2726426	NM_001905.4(CTPS1):c.1186T>C (p.Leu396=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2716658	NM_001905.4(CTPS1):c.1393+12C>T	CTPS1, LOC126805717	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2714404	NM_001905.4(CTPS1):c.556-14_556-10dup	CTPS1	Duplication (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2709403	NM_001905.4(CTPS1):c.167-15C>G	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2708422	NM_001905.4(CTPS1):c.693A>G (p.Ser231=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2701354	NM_001905.4(CTPS1):c.1094+5G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2638724	NM_001905.4(CTPS1):c.304C>T (p.Arg102Trp)	CTPS1 (R102W)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency +1 more	GUncertain significance
Select item 2419868	NM_001905.4(CTPS1):c.675A>G (p.Ser225=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2416650	NM_001905.4(CTPS1):c.1236C>T (p.Asn412=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2310778	NM_001905.4(CTPS1):c.881G>A (p.Arg294His)	CTPS1 (R294H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2199655	NM_001905.4(CTPS1):c.337+10G>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2199144	NM_001905.4(CTPS1):c.1410C>T (p.Asp470=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2196770	NM_001905.4(CTPS1):c.945C>G (p.Ala315=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2195643	NM_001905.4(CTPS1):c.438+20A>G	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2194957	NM_001905.4(CTPS1):c.1674C>G (p.Gly558=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2192787	NM_001905.4(CTPS1):c.1394-14G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2169522	NM_001905.4(CTPS1):c.1132A>G (p.Thr378Ala)	CTPS1 (T222A +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2165996	NM_001905.4(CTPS1):c.1297-9C>T	CTPS1, LOC126805717	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2161936	NM_001905.4(CTPS1):c.81C>T (p.Leu27=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2161684	NM_001905.4(CTPS1):c.1390A>C (p.Met464Leu)	CTPS1, LOC126805717 (M308L +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2156956	NM_001905.4(CTPS1):c.1190-16T>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2150255	NM_001905.4(CTPS1):c.873-3T>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2143157	NM_001905.4(CTPS1):c.872+12A>G	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2141769	NM_001905.4(CTPS1):c.820A>G (p.Ile274Val)	CTPS1 (I274V +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2128933	NM_001905.4(CTPS1):c.1268A>G (p.Glu423Gly)	CTPS1 (E267G +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2119038	NM_001905.4(CTPS1):c.98A>T (p.His33Leu)	CTPS1 (H33L)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2112937	NM_001905.4(CTPS1):c.191G>A (p.Gly64Asp)	CTPS1 (G64D)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2100260	NM_001905.4(CTPS1):c.1461C>T (p.Val487=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2080622	NM_001905.4(CTPS1):c.1393+16C>T	CTPS1, LOC126805717	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2079045	NM_001905.4(CTPS1):c.1432C>T (p.His478Tyr)	CTPS1 (H478Y +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2078244	NM_001905.4(CTPS1):c.609A>G (p.Glu203=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2067574	NM_001905.4(CTPS1):c.1450-14T>A	CTPS1	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2030748	NM_001905.4(CTPS1):c.1668G>A (p.Gln556=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2027029	NM_001905.4(CTPS1):c.1296+3G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2026625	NM_001905.4(CTPS1):c.1473T>C (p.Cys491=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2023044	NM_001905.4(CTPS1):c.872+4T>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2015636	NM_001905.4(CTPS1):c.454G>A (p.Gly152Arg)	CTPS1 (G152R)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2011859	NM_001905.4(CTPS1):c.456G>A (p.Gly152=)	CTPS1	Single nucleotide variant (5 prime UTR variant +2 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2008599	NM_001905.4(CTPS1):c.332T>C (p.Val111Ala)	CTPS1 (V111A)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2005778	NM_001905.4(CTPS1):c.568G>A (p.Gly190Arg)	CTPS1 (G34R +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2004822	NM_001905.4(CTPS1):c.1604A>G (p.Lys535Arg)	CTPS1 (K535R +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 2003785	NM_001905.4(CTPS1):c.732C>T (p.Val244=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 2001978	NM_001905.4(CTPS1):c.555_555+997del	CTPS1	Deletion (splice donor variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1996805	NM_001905.4(CTPS1):c.509T>G (p.Val170Gly)	CTPS1 (V14G +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1994123	NM_001905.4(CTPS1):c.1449+3G>A	CTPS1	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1982892	NM_001905.4(CTPS1):c.387G>A (p.Ala129=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 1975459	NM_001905.4(CTPS1):c.1094+10G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 1960052	NM_001905.4(CTPS1):c.1695C>T (p.Asp565=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 1958617	NM_001905.4(CTPS1):c.1331T>A (p.Met444Lys)	CTPS1, LOC126805717 (M444K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1956050	NM_001905.4(CTPS1):c.1684T>C (p.Ser562Pro)	CTPS1 (S562P +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance

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