CD247[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 1223432	NM_198053.3(CD247):c.243_251del	CD247	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 939907	NM_198053.3(CD247):c.495A>C (p.Ter165Tyr)	CD247	Single nucleotide variant (stop lost)	Immunodeficiency 25	GUncertain significance
Select item 626075	NM_198053.3(CD247):c.491G>A (p.Arg164His)	CD247 (R164H +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25 +1 more	GUncertain significance
Select item 947935	NM_198053.3(CD247):c.490C>T (p.Arg164Cys)	CD247 (R195C +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2196646	NM_198053.3(CD247):c.488C>G (p.Pro163Arg)	CD247 (P163R +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1170137	NM_198053.3(CD247):c.486C>T (p.Pro162=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GBenign
Select item 3264783	NM_198053.3(CD247):c.474G>A (p.Met158Ile)	CD247 (M158I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 937736	NM_198053.3(CD247):c.463G>A (p.Ala155Thr)	CD247 (A155T +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 534696	NM_198053.3(CD247):c.462C>T (p.Asp154=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 3010713	NM_198053.3(CD247):c.447C>T (p.Thr149=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1589228	NM_198053.3(CD247):c.444C>T (p.Ala148=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1130102	NM_198053.3(CD247):c.430-5G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2115357	NM_198053.3(CD247):c.430-6C>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GUncertain significance
Select item 703238	NM_198053.3(CD247):c.430-6C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2082521	NM_198053.3(CD247):c.430-12C>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1600956	NM_198053.3(CD247):c.430-18G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GBenign
Select item 1203968	NM_198053.3(CD247):c.430-128T>A	CD247	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217835	NM_198053.3(CD247):c.430-141G>A	CD247	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266856	NM_198053.3(CD247):c.430-271G>A	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287203	NM_198053.3(CD247):c.429+278C>T	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1540888	NM_198053.3(CD247):c.429+19C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1616752	NM_198053.3(CD247):c.429+16G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2153072	NM_198053.3(CD247):c.429+15C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1944212	NM_198053.3(CD247):c.429+13G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1606797	NM_198053.3(CD247):c.429+12C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 3339434	NM_198053.3(CD247):c.429+5G>A	CD247	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 466358	NM_198053.3(CD247):c.427C>T (p.Gln143Ter)	CD247 (Q143* +3 more)	Single nucleotide variant (nonsense)	Immunodeficiency 25	GUncertain significance
Select item 2104434	NM_198053.3(CD247):c.417T>C (p.Asp139=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2316414	NM_198053.3(CD247):c.415G>A (p.Asp139Asn)	CD247 (D138N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757680	NM_198053.3(CD247):c.414C>T (p.His138=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 534699	NM_198053.3(CD247):c.411G>C (p.Gly137=)	CD247	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2120320	NM_198053.3(CD247):c.401G>A (p.Arg134Lys)	CD247 (R164K +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 992558	NM_198053.3(CD247):c.398G>A (p.Arg133Gln)	CD247 (R132Q +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1057409	NM_198053.3(CD247):c.397C>T (p.Arg133Trp)	CD247 (R132W +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2061545	NM_198053.3(CD247):c.395G>A (p.Arg132His)	CD247 (R132H +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 575904	NM_198053.3(CD247):c.394C>T (p.Arg132Cys)	CD247 (R132C +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 3015133	NM_198053.3(CD247):c.394-6_394-4del	CD247	Microsatellite (intron variant)	Immunodeficiency 25	GLikely benign
Select item 799755	NM_198053.3(CD247):c.394-8_394-5del	CD247	Deletion (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1584592	NM_198053.3(CD247):c.394-10A>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2112523	NM_198053.3(CD247):c.394-19T>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GUncertain significance
Select item 1947257	NM_198053.3(CD247):c.394-19T>C	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1265565	NM_198053.3(CD247):c.393+45C>T	CD247	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2783835	NM_198053.3(CD247):c.390C>T (p.Gly130=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GUncertain significance
Select item 937259	NM_198053.3(CD247):c.386A>G (p.Lys129Arg)	CD247 (K160R +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1966588	NM_198053.3(CD247):c.381G>T (p.Gly127=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 935817	NM_198053.3(CD247):c.370A>T (p.Ser124Cys)	CD247 (S155C +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1976780	NM_198053.3(CD247):c.365C>G (p.Ala122Gly)	CD247 (A121G +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 704386	NM_198053.3(CD247):c.360G>A (p.Ala120=)	CD247	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 951502	NM_198053.3(CD247):c.359C>T (p.Ala120Val)	CD247 (A119V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450604	NM_198053.3(CD247):c.356T>C (p.Met119Thr)	CD247 (M119T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064375	NM_198053.3(CD247):c.350A>G (p.Asp117Gly)	CD247 (D116G +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2845215	NM_198053.3(CD247):c.348A>G (p.Lys116=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1605344	NM_198053.3(CD247):c.345G>A (p.Gln115=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2837523	NM_198053.3(CD247):c.337-4G>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2164051	NM_198053.3(CD247):c.337-5T>C	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 845328	NM_198053.3(CD247):c.337-6C>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 705623	NM_198053.3(CD247):c.337-7T>C	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GBenign
Select item 3001144	NM_198053.3(CD247):c.337-11C>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1633467	NM_198053.3(CD247):c.337-14G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1550889	NM_198053.3(CD247):c.337-15C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2701235	NM_198053.3(CD247):c.337-18C>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1259945	NM_198053.3(CD247):c.337-191T>C	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275568	NM_198053.3(CD247):c.337-312T>C	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1115496	NM_198053.3(CD247):c.336+20C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1990728	NM_198053.3(CD247):c.328C>T (p.Leu110=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2485079	NM_198053.3(CD247):c.315C>A (p.Asn105Lys)	CD247 (N136K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1035756	NM_198053.3(CD247):c.310A>G (p.Lys104Glu)	CD247 (K103E +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2840093	NM_198053.3(CD247):c.309G>A (p.Arg103=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1927347	NM_198053.3(CD247):c.308G>A (p.Arg103Lys)	CD247 (R133K +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3336382	NM_198053.3(CD247):c.301C>A (p.Gln101Lys)	CD247 (Q101K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 419227	NM_198053.3(CD247):c.301C>T (p.Gln101Ter)	CD247 (Q101* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1169301	NM_198053.3(CD247):c.301-14G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GBenign
Select item 1586717	NM_198053.3(CD247):c.301-15C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2066425	NM_198053.3(CD247):c.301-20C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1188114	NM_198053.3(CD247):c.301-318C>T	CD247	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291551	NM_198053.3(CD247):c.300+290T>C	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192703	NM_198053.3(CD247):c.300+121A>G	CD247	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1292233	NM_198053.3(CD247):c.300+25G>A	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2105314	NM_198053.3(CD247):c.300+13C>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2696644	NM_198053.3(CD247):c.300+11C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 466356	NM_198053.3(CD247):c.300+8T>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25 +1 more	GBenign
Select item 953720	NM_198053.3(CD247):c.300+3A>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GUncertain significance
Select item 952188	NM_198053.3(CD247):c.300G>A (p.Pro100=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GUncertain significance
Select item 534697	NM_198053.3(CD247):c.294A>G (p.Gly98=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1958146	NM_198053.3(CD247):c.291G>A (p.Gly97=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1416361	NM_198053.3(CD247):c.289G>A (p.Gly97Arg)	CD247 (G97R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 946910	NM_198053.3(CD247):c.288G>T (p.Met96Ile)	CD247 (M127I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 644174	NM_198053.3(CD247):c.275G>A (p.Arg92Gln)	CD247 (R92Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25 +1 more	GUncertain significance
Select item 1040612	NM_198053.3(CD247):c.274C>T (p.Arg92Trp)	CD247 (R92W +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1468834	NM_198053.3(CD247):c.269G>A (p.Arg90His)	CD247 (R121H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 947324	NM_198053.3(CD247):c.268C>T (p.Arg90Cys)	CD247 (R121C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25 +1 more	GUncertain significance
Select item 643887	NM_198053.3(CD247):c.263A>G (p.Lys88Arg)	CD247 (K88R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1364326	NM_198053.3(CD247):c.253G>A (p.Val85Ile)	CD247 (V85I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance

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