SLAMF8[gene] - ClinVar

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Items: 37

	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 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 2388737	NM_020125.3(SLAMF8):c.23G>A (p.Ser8Asn)	SLAMF8 (S8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400047	NM_020125.3(SLAMF8):c.56C>T (p.Thr19Ile)	SLAMF8 (T19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162732	NM_020125.3(SLAMF8):c.73G>A (p.Val25Met)	SLAMF8 (V25M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230741	NM_020125.3(SLAMF8):c.91G>A (p.Gly31Ser)	SLAMF8 (G31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511411	NM_020125.3(SLAMF8):c.92G>A (p.Gly31Asp)	SLAMF8 (G31D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2524864	NM_020125.3(SLAMF8):c.119C>G (p.Pro40Arg)	SLAMF8 (P40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488546	NM_020125.3(SLAMF8):c.128T>C (p.Phe43Ser)	SLAMF8 (F43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318771	NM_020125.3(SLAMF8):c.137G>A (p.Arg46His)	SLAMF8 (R46H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162730	NM_020125.3(SLAMF8):c.217C>T (p.His73Tyr)	SLAMF8 (H73Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530311	NM_020125.3(SLAMF8):c.235C>G (p.Arg79Gly)	SLAMF8 (R79G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397357	NM_020125.3(SLAMF8):c.271G>A (p.Gly91Arg)	SLAMF8 (G91R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489602	NM_020125.3(SLAMF8):c.298A>C (p.Asn100His)	SLAMF8 (N100H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604154	NM_020125.3(SLAMF8):c.406G>A (p.Val136Ile)	SLAMF8 (V136I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2387573	NM_020125.3(SLAMF8):c.413G>A (p.Arg138Lys)	SLAMF8 (R138K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318773	NM_020125.3(SLAMF8):c.436T>G (p.Cys146Gly)	SLAMF8 (C146G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162731	NM_020125.3(SLAMF8):c.494G>A (p.Arg165Gln)	SLAMF8 (R165Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479498	NM_020125.3(SLAMF8):c.496C>T (p.Arg166Trp)	SLAMF8 (R166W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236506	NM_020125.3(SLAMF8):c.497G>T (p.Arg166Leu)	SLAMF8 (R57L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263161	NM_020125.3(SLAMF8):c.513C>G (p.Asp171Glu)	SLAMF8 (D62E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318774	NM_020125.3(SLAMF8):c.529C>T (p.His177Tyr)	SLAMF8 (H177Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294133	NM_020125.3(SLAMF8):c.650G>T (p.Trp217Leu)	SLAMF8 (W217L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461866	NM_020125.3(SLAMF8):c.667G>A (p.Glu223Lys)	SLAMF8 (E114K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318775	NM_020125.3(SLAMF8):c.688T>G (p.Ser230Ala)	SLAMF8 (S121A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618305	NM_020125.3(SLAMF8):c.707T>C (p.Leu236Pro)	SLAMF8 (L236P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556649	NM_020125.3(SLAMF8):c.710T>A (p.Val237Glu)	SLAMF8 (V128E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602943	NM_020125.3(SLAMF8):c.725C>T (p.Ser242Leu)	SLAMF8 (S133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162734	NM_020125.3(SLAMF8):c.777C>G (p.Cys259Trp)	SLAMF8 (C259W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 37