2519[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 451721	NM_001905.4(CTPS1):c.3G>T (p.Met1Ile)	CTPS1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 1475401	NM_001905.4(CTPS1):c.98A>G (p.His33Arg)	CTPS1 (H33R)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
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 1370369	NM_001905.4(CTPS1):c.115A>G (p.Ile39Val)	CTPS1 (I39V)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1481234	NM_001905.4(CTPS1):c.137A>G (p.Asp46Gly)	CTPS1 (D46G)	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 1108777	NM_001905.4(CTPS1):c.166+7dup	CTPS1	Duplication (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 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 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 1121377	NM_001905.4(CTPS1):c.167-5T>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
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 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 567100	NM_001905.4(CTPS1):c.221A>G (p.Tyr74Cys)	CTPS1 (Y74C)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
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 2540005	NM_001905.4(CTPS1):c.233T>G (p.Leu78Arg)	CTPS1 (L78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1500698	NM_001905.4(CTPS1):c.241C>T (p.Arg81Cys)	CTPS1 (R81C)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 658314	NM_001905.4(CTPS1):c.242G>A (p.Arg81His)	CTPS1 (R81H)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1714808	NM_001905.4(CTPS1):c.262C>G (p.Leu88Val)	CTPS1 (L88V)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 850731	NM_001905.4(CTPS1):c.287A>G (p.Tyr96Cys)	CTPS1 (Y96C)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 541960	NM_001905.4(CTPS1):c.297C>T (p.Asn99=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
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 1933794	NM_001905.4(CTPS1):c.305G>A (p.Arg102Gln)	CTPS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1146481	NM_001905.4(CTPS1):c.309A>G (p.Lys103=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 541959	NM_001905.4(CTPS1):c.312A>G (p.Gly104=)	CTPS1	Single nucleotide variant (synonymous variant +1 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 844360	NM_001905.4(CTPS1):c.336A>G (p.Gln112=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	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 1624920	NM_001905.4(CTPS1):c.337+14T>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 1548024	NM_001905.4(CTPS1):c.337+16C>T	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 1920309	NM_001905.4(CTPS1):c.342C>T (p.Val114=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 1373764	NM_001905.4(CTPS1):c.361A>G (p.Ile121Val)	CTPS1 (I121V)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 794804	NM_001905.4(CTPS1):c.369G>A (p.Glu123=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 947271	NM_001905.4(CTPS1):c.370T>G (p.Trp124Gly)	CTPS1 (W124G)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1003774	NM_001905.4(CTPS1):c.386C>T (p.Ala129Val)	CTPS1 (A129V)	Single nucleotide variant (missense 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 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 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 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 1480864	NM_001905.4(CTPS1):c.438+1G>A	CTPS1	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
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 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 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 1544436	NM_001905.4(CTPS1):c.439-15A>C	CTPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 1051093	NM_001905.4(CTPS1):c.439-6T>G	CTPS1	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
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 575496	NM_001905.4(CTPS1):c.451G>A (p.Val151Met)	CTPS1 (V151M)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
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 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 1102737	NM_001905.4(CTPS1):c.456G>T (p.Gly152=)	CTPS1	Single nucleotide variant (5 prime UTR variant +2 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 649485	NM_001905.4(CTPS1):c.472C>T (p.Pro158Ser)	CTPS1 (P2S +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency +1 more	GUncertain significance
Select item 760676	NM_001905.4(CTPS1):c.480T>C (p.Ile160=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 475187	NM_001905.4(CTPS1):c.501A>G (p.Gln167=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency +1 more	GBenign
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 541957	NM_001905.4(CTPS1):c.525T>C (p.Phe175=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 749636	NM_001905.4(CTPS1):c.537C>T (p.His179=)	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 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 1464162	NM_001905.4(CTPS1):c.555+5G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
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 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 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 2628285	NM_001905.4(CTPS1):c.555+43G>A	CTPS1	Single nucleotide variant (intron variant)	not specified	GBenign
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 1580068	NM_001905.4(CTPS1):c.556-16_556-15insG	CTPS1	Insertion (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 1168244	NM_001905.4(CTPS1):c.556-16T>G	CTPS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 769511	NM_001905.4(CTPS1):c.556-9G>T	CTPS1	Single nucleotide variant (intron variant)	not specified +1 more	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 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 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 784633	NM_001905.4(CTPS1):c.570G>A (p.Gly190=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GBenign
Select item 1510279	NM_001905.4(CTPS1):c.584A>C (p.Lys195Thr)	CTPS1 (K39T +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1005595	NM_001905.4(CTPS1):c.586C>T (p.Pro196Ser)	CTPS1 (P196S +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
Select item 1118870	NM_001905.4(CTPS1):c.594G>A (p.Gln198=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 644321	NM_001905.4(CTPS1):c.607G>C (p.Glu203Gln)	CTPS1 (E203Q +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 566259	NM_001905.4(CTPS1):c.636T>A (p.Asp212Glu)	CTPS1 (D212E +1 more)	Single nucleotide variant (missense 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 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 1091581	NM_001905.4(CTPS1):c.640-5G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign
Select item 1112957	NM_001905.4(CTPS1):c.663A>G (p.Pro221=)	CTPS1	Single nucleotide variant (synonymous variant +1 more)	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 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 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 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 1521037	NM_001905.4(CTPS1):c.720+1G>A	CTPS1	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GUncertain significance
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 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 2628230	NM_001905.4(CTPS1):c.721-76G>C	CTPS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1671178	NM_001905.4(CTPS1):c.721-20A>C	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency	GLikely benign

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