CD68[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 150702	GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3	ATP1B2, CD68 +36 more	Copy number gain	See cases	GUncertain significance
Select item 755761	NM_001251.3(CD68):c.27G>C (p.Gly9=)	CD68	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340571	NM_001251.3(CD68):c.29C>T (p.Ala10Val)	CD68 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714727	NM_001251.3(CD68):c.54G>A (p.Gln18=)	CD68	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2365690	NM_001251.3(CD68):c.118C>T (p.Pro40Ser)	CD68 (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717429	NM_001251.3(CD68):c.122C>T (p.Thr41Met)	CD68 (T41M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3264866	NM_001251.3(CD68):c.176C>T (p.Thr59Ile)	CD68 (T32I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556142	NM_001251.3(CD68):c.176C>G (p.Thr59Ser)	CD68 (T32S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226317	NM_001251.3(CD68):c.202G>A (p.Gly68Ser)	CD68 (G41S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264867	NM_001251.3(CD68):c.220C>G (p.Pro74Ala)	CD68 (P74A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220904	NM_001251.3(CD68):c.224C>T (p.Thr75Met)	CD68 (T48M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140647	NM_001251.3(CD68):c.248C>T (p.Thr83Ile)	CD68 (T83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140648	NM_001251.3(CD68):c.253A>C (p.Ser85Arg)	CD68 (S58R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382679	NM_001251.3(CD68):c.290G>A (p.Ser97Asn)	CD68 (S70N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264868	NM_001251.3(CD68):c.361G>A (p.Val121Ile)	CD68 (V121I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264865	NM_001251.3(CD68):c.448A>G (p.Ser150Gly)	CD68 (S123G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216825	NM_001251.3(CD68):c.470T>C (p.Ile157Thr)	CD68 (I130T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740180	NM_001251.3(CD68):c.549A>G (p.Thr183=)	CD68, LOC130060163	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514555	NM_001251.3(CD68):c.551C>T (p.Thr184Ile)	CD68, LOC130060163 (T157I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624170	NM_001251.3(CD68):c.635C>T (p.Pro212Leu)	CD68 (P185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739882	NM_001251.3(CD68):c.640C>T (p.Leu214=)	CD68	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232677	NM_001251.3(CD68):c.652T>C (p.Phe218Leu)	CD68 (F191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140650	NM_001251.3(CD68):c.659A>G (p.Tyr220Cys)	CD68 (Y220C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384874	NM_001251.3(CD68):c.721A>G (p.Met241Val)	CD68 (M214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140651	NM_001251.3(CD68):c.773C>T (p.Ser258Leu)	CD68 (S231L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291752	NM_001251.3(CD68):c.842G>A (p.Ser281Asn)	CD68 (S254N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265779	NM_001251.3(CD68):c.867C>A (p.His289Gln)	CD68 (H289Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390505	NM_001251.3(CD68):c.883C>G (p.Leu295Val)	CD68 (L268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140652	NM_001251.3(CD68):c.896C>A (p.Ala299Asp)	CD68 (A272D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749366	NM_001251.3(CD68):c.931+9T>C	CD68	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783768	NM_001251.3(CD68):c.986T>C (p.Ile329Thr)	CD68 (I302T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3140646	NM_001251.3(CD68):c.1033C>T (p.Arg345Trp)	CD68 (R345W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480230	NM_001251.3(CD68):c.1036A>G (p.Arg346Gly)	CD68 (R319G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX12B, ALOX15B +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1341139	GRCh37/hg19 17p13.1(chr17:7453504-7734096)x3	FXR2, CD68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815901	GRCh37/hg19 17p13.1(chr17:7381536-7535411)x1	TNFSF12-TNFSF13, ZBTB4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 61