CD4[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 1048527	NM_000616.5(CD4):c.1A>G (p.Met1Val)	CD4 (M1V)	Single nucleotide variant (missense variant +3 more)	Immunodeficiency 79	GPathogenic
Select item 1192704	NM_000616.5(CD4):c.49+28del	CD4	Deletion (intron variant)	Immunodeficiency 79 +1 more	GBenign
Select item 1192705	NM_000616.5(CD4):c.49+35A>G	CD4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2688003	NM_000616.5(CD4):c.50-31T>C	CD4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2459148	NM_000616.5(CD4):c.369C>A (p.Phe123Leu)	CD4 (F123L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 714504	NM_000616.5(CD4):c.369C>T (p.Phe123=)	CD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2476258	NM_000616.5(CD4):c.557T>C (p.Val186Ala)	CD4 (V131A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714505	NM_000616.5(CD4):c.571A>G (p.Lys191Glu)	CD4 (K191E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2688100	NM_000616.5(CD4):c.608-73C>T	CD4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 3140589	NM_000616.5(CD4):c.676G>A (p.Ala226Thr)	CD4 (A171T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 789804	NM_000616.5(CD4):c.680T>C (p.Phe227Ser)	CD4 (F227S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 789805	NM_000616.5(CD4):c.699G>T (p.Thr233=)	CD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 743449	NM_000616.5(CD4):c.699G>A (p.Thr233=)	CD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642636	NM_000616.5(CD4):c.708C>T (p.Gly236=)	CD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 742540	NM_000616.5(CD4):c.711G>A (p.Glu237=)	CD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 29898	NM_000616.5(CD4):c.793C>T (p.Arg265Trp)	CD4 (R265W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 626076	NM_000616.5(CD4):c.799A>G (p.Thr267Ala)	CD4 (T267A +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 79 +1 more	GUncertain significance
Select item 2642637	NM_000616.5(CD4):c.924G>A (p.Leu308=)	CD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293145	NM_000616.5(CD4):c.982T>C (p.Cys328Arg)	CD4 (C273R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743450	NM_000616.5(CD4):c.1020G>C (p.Leu340=)	CD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1192706	NM_000616.5(CD4):c.1023T>C (p.Ser341=)	CD4	Single nucleotide variant (synonymous variant)	Immunodeficiency 79 +2 more	GBenign
Select item 3046774	NM_000616.5(CD4):c.1030C>T (p.Leu344=)	CD4	Single nucleotide variant (synonymous variant)	CD4-related disorder	GLikely benign
Select item 2360144	NM_000616.5(CD4):c.1055C>G (p.Ser352Trp)	CD4 (S297W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048523	NM_000616.5(CD4):c.1080G>A (p.Val360=)	CD4	Single nucleotide variant (synonymous variant)	CD4-related disorder	GLikely benign
Select item 2605865	NM_000616.5(CD4):c.1082T>C (p.Leu361Pro)	CD4 (L361P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688271	NM_000616.5(CD4):c.1157-117C>T	CD4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1048526	NM_000616.5(CD4):c.1157-1G>A	CD4	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 79	GPathogenic
Select item 2529787	NM_000616.5(CD4):c.1183C>A (p.Gln395Lys)	CD4 (Q122K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278141	NM_000616.5(CD4):c.1219G>A (p.Gly407Ser)	CD4 (G228S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708145	NM_000616.5(CD4):c.1292G>A (p.Arg431Gln)	CD4 (R252Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377032	NM_000616.5(CD4):c.1330A>G (p.Thr444Ala)	CD4 (T171A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192707	NM_000616.5(CD4):c.1341T>C (p.Cys447=)	CD4	Single nucleotide variant (synonymous variant)	Immunodeficiency 79 +2 more	GBenign
Select item 1192708	NM_000616.5(CD4):c.1346+55T>G	CD4	Single nucleotide variant (intron variant)	Immunodeficiency 79 +1 more	GBenign
Select item 3140586	NM_000616.5(CD4):c.1347C>T (p.His449=)	CD4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3140587	NM_000616.5(CD4):c.1348C>T (p.Arg450Trp)	CD4 (R395W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718668	NM_000616.5(CD4):c.1368C>T (p.Ser456=)	CD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1192709	NM_000616.5(CD4):c.*91C>A	CD4	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1192710	NM_000616.5(CD4):c.*92A>G	CD4	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 79 +2 more	GBenign
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3063252	GRCh37/hg19 12p13.31(chr12:6691292-6992208)x3	ACRBP, CD4 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527683	GRCh37/hg19 12p13.31(chr12:6872634-7244086)	ATN1, C12orf57 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	PEX5, PHB2 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 685583	GRCh37/hg19 12p13.31(chr12:6872484-7009333)x3	CD4, CDCA3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 89