"GeneDx"[submitter] AND "CD247"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	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 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 1265565	NM_198053.3(CD247):c.393+45C>T	CD247	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 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 466356	NM_198053.3(CD247):c.300+8T>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25 +1 more	GBenign
Select item 466354	NM_198053.3(CD247):c.249C>T (p.Tyr83=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25 +1 more	GBenign
Select item 466353	NM_198053.3(CD247):c.246G>A (p.Glu82=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25 +1 more	GBenign
Select item 1213169	NM_198053.3(CD247):c.220-28G>A	CD247	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707340	NM_198053.3(CD247):c.220-184C>G	CD247	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258083	NM_198053.3(CD247):c.220-186G>T	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234236	NM_198053.3(CD247):c.219+275A>G	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178674	NM_198053.3(CD247):c.219+121C>T	CD247	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166019	NM_198053.3(CD247):c.219+16C>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25 +2 more	GBenign
Select item 1179252	NM_198053.3(CD247):c.163-33G>A	CD247, LOC129931851	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1276831	NM_198053.3(CD247):c.163-237T>C	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 279740	NM_198053.3(CD247):c.162+6T>C	CD247	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1706749	NM_198053.3(CD247):c.59-176G>A	CD247	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258636	NM_198053.3(CD247):c.59-199G>A	CD247	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281371	NM_198053.3(CD247):c.58+158C>T	CD247, LOC126805905	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237879	NM_198053.3(CD247):c.58+59G>C	CD247, LOC126805905	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1248909	NC_000001.11:g.167518643C>T	CD247	Single nucleotide variant	not provided	GBenign
Select item 1281408	NC_000001.11:g.167518762T>A	CD247	Single nucleotide variant	not provided	GBenign

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Items: 36