SLAMF7[gene] - ClinVar

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Items: 23

	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 2263724	NM_021181.5(SLAMF7):c.227G>T (p.Arg76Leu)	SLAMF7 (R76L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517920	NM_021181.5(SLAMF7):c.482T>C (p.Ile161Thr)	SLAMF7 (I161T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 773285	NM_021181.5(SLAMF7):c.523C>T (p.His175Tyr)	SLAMF7 (H41Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3318770	NM_021181.5(SLAMF7):c.755G>C (p.Arg252Thr)	SLAMF7 (R252T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236461	NM_021181.5(SLAMF7):c.796G>A (p.Asp266Asn)	SLAMF7 (D132N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162728	NM_021181.5(SLAMF7):c.797A>G (p.Asp266Gly)	SLAMF7 (D132G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588238	NM_021181.5(SLAMF7):c.941A>C (p.Glu314Ala)	SLAMF7 (E183A +5 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3338221	NM_021181.5(SLAMF7):c.953C>A (p.Ser318Ter)	SLAMF7 (S171* +5 more)	Single nucleotide variant (synonymous variant +1 more)	Autism	GUncertain significance
Select item 3162729	NM_021181.5(SLAMF7):c.956T>G (p.Leu319Arg)	SLAMF7 (L188R +5 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2685743	GRCh37/hg19 1q23.2-23.3(chr1:160368624-160871262)x1	CD244, CD48 +7 more	Copy number loss	not provided	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 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
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 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 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: 23