"GeneDx"[submitter] AND "CD164"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 1246520	NM_006016.6(CD164):c.*623T>C	CD164	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1278988	NM_006016.6(CD164):c.*373A>G	CD164	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1317482	NM_006016.6(CD164):c.*320C>G	CD164	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1261992	NM_006016.6(CD164):c.*152G>A	CD164	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1242801	NM_006016.6(CD164):c.*147C>A	CD164	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 513071	NM_006016.6(CD164):c.575G>A (p.Arg192Gln)	CD164 (R192Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1317476	NM_006016.6(CD164):c.428-297C>T	CD164	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286472	NM_006016.6(CD164):c.427+286A>G	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682717	NM_006016.6(CD164):c.427+58_427+59dup	CD164	Duplication (intron variant)	not provided	GLikely benign
Select item 509119	NM_006016.6(CD164):c.402A>G (p.Thr134=)	CD164	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1278727	NM_006016.6(CD164):c.371-96A>G	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279387	NM_006016.6(CD164):c.371-274C>T	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279312	NM_006016.6(CD164):c.370+226G>T	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317477	NM_006016.6(CD164):c.370+194A>G	CD164	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326617	NM_006016.6(CD164):c.339G>A (p.Thr113=)	CD164	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1268999	NM_006016.6(CD164):c.332-284T>G	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220607	NM_006016.6(CD164):c.331+240dup	CD164	Duplication (intron variant)	not provided	GBenign
Select item 1268191	NM_006016.6(CD164):c.331+255del	CD164	Deletion (intron variant)	not provided	GBenign
Select item 1317479	NM_006016.6(CD164):c.331+58G>C	CD164	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667083	NM_006016.6(CD164):c.330C>T (p.Ser110=)	CD164	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1290645	NM_006016.6(CD164):c.260-185G>A	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273273	NM_006016.6(CD164):c.260-272T>A	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269787	NM_006016.6(CD164):c.259+150G>T	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258272	NM_006016.6(CD164):c.259+20C>G	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317475	NM_006016.6(CD164):c.221G>A (p.Ser74Asn)	CD164 (S40N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 514693	NM_006016.6(CD164):c.209G>A (p.Cys70Tyr)	CD164 (C70Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 449908	NM_006016.6(CD164):c.194A>G (p.Asn65Ser)	CD164 (N65S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1272111	NM_006016.6(CD164):c.176-191A>C	CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222731	NM_006016.6(CD164):c.175+278del	CD164, LOC129996957	Deletion (intron variant)	not provided	GBenign
Select item 1278305	NM_006016.6(CD164):c.175+237G>C	CD164, LOC129996957	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264423	NM_006016.6(CD164):c.175+166C>G	CD164, LOC129996957	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247054	NM_006016.6(CD164):c.175+100G>A	LOC129996957, CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682716	NM_006016.6(CD164):c.175+80C>T	CD164, LOC129996957	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288356	NM_006016.6(CD164):c.175+16G>A	CD164, LOC129996957	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317481	NM_006016.6(CD164):c.131C>T (p.Ser44Leu)	CD164 (S44L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 512048	NM_006016.6(CD164):c.37A>G (p.Thr13Ala)	CD164 (T13A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1318061	NM_006016.6(CD164):c.-3A>G	CD164	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 508628	NM_006016.6(CD164):c.-41C>G	CD164	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1240443	NC_000006.12:g.109382480G>C	CD164	Single nucleotide variant	not provided	GBenign
Select item 1225917	NC_000006.12:g.109382524C>A	CD164	Single nucleotide variant	not provided	GBenign
Select item 1317478	NC_000006.12:g.109382665A>T	CD164	Single nucleotide variant	not provided	GLikely benign
Select item 1278952	NC_000006.12:g.109382859A>G	CD164, LOC129996958	Single nucleotide variant	not provided	GBenign
Select item 1276124	NC_000006.12:g.109382888G>A	CD164, LOC129996958	Single nucleotide variant	not provided	GBenign

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Items: 44