Related gene-specific medical variations for Gene (Select 283316) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263249	NM_001080454.2(ACSM4):c.1217A>G (p.Glu406Gly)	ACSM4, CD163L1 (E406G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140588	NM_001080454.2(ACSM4):c.1403T>A (p.Val468Asp)	ACSM4, CD163L1 +1 more (V468D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140324	NM_174941.6(CD163L1):c.4060A>G (p.Asn1354Asp)	CD163L1, LOC126861436 (N1354D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140323	NM_174941.6(CD163L1):c.4011C>G (p.His1337Gln)	CD163L1, LOC126861436 (H1337Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140322	NM_174941.6(CD163L1):c.3979G>A (p.Ala1327Thr)	CD163L1, LOC126861436 (A1327T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140321	NM_174941.6(CD163L1):c.3940C>T (p.Arg1314Trp)	CD163L1, LOC126861436 (R1324W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024838	NM_174941.6(CD163L1):c.4066T>C (p.Ser1356Pro)	CD163L1, LOC126861436 (S1356P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2600229	NM_174941.6(CD163L1):c.3760G>A (p.Glu1254Lys)	CD163L1, LOC126861436 (E1264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409250	NM_001080454.2(ACSM4):c.961C>A (p.Pro321Thr)	ACSM4, CD163L1 (P321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352039	NM_001080454.2(ACSM4):c.1528C>T (p.Arg510Cys)	ACSM4, CD163L1 +1 more (R510C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330531	NM_174941.6(CD163L1):c.3790G>T (p.Ala1264Ser)	CD163L1, LOC126861436 (A1264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280578	NM_174941.6(CD163L1):c.3803G>A (p.Gly1268Asp)	CD163L1, LOC126861436 (G1278D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268669	NM_001080454.2(ACSM4):c.1595T>C (p.Leu532Ser)	ACSM4, CD163L1 (L532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211725	NM_001080454.2(ACSM4):c.1705C>T (p.Arg569Cys)	ACSM4, CD163L1 (R569C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732048	NM_174941.6(CD163L1):c.3821C>A (p.Ser1274Tyr)	CD163L1, LOC126861436 (S1274Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign