ClinVar for Gene (Select 89886) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318777	NM_033438.4(SLAMF9):c.524G>T (p.Ser175Ile)	SLAMF9 (S175I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318776	NM_033438.4(SLAMF9):c.646G>A (p.Asp216Asn)	SLAMF9 (D216N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162742	NM_033438.4(SLAMF9):c.845C>A (p.Ala282Glu)	SLAMF9 (A191E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162741	NM_033438.4(SLAMF9):c.839A>G (p.Lys280Arg)	SLAMF9 (K280R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162740	NM_033438.4(SLAMF9):c.834G>T (p.Leu278Phe)	SLAMF9 (L187F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162739	NM_033438.4(SLAMF9):c.726C>T (p.Leu242=)	SLAMF9 (S106L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3162737	NM_033438.4(SLAMF9):c.674A>C (p.Tyr225Ser)	SLAMF9 (Y225S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162736	NM_033438.4(SLAMF9):c.608A>G (p.Asn203Ser)	SLAMF9 (N203S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3162735	NM_033438.4(SLAMF9):c.226A>G (p.Met76Val)	SLAMF9 (M76V)	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 2524486	NM_033438.4(SLAMF9):c.455T>C (p.Met152Thr)	SLAMF9 (M152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493375	NM_033438.4(SLAMF9):c.463G>A (p.Val155Met)	SLAMF9 (V155M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310417	NM_033438.4(SLAMF9):c.776T>G (p.Val259Gly)	SLAMF9 (V168G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277015	NM_033438.4(SLAMF9):c.514C>T (p.Arg172Trp)	SLAMF9 (R172W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2268585	NM_033438.4(SLAMF9):c.254A>G (p.Gln85Arg)	SLAMF9 (Q85R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	ACKR1, ADAMTS4 +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1340149	GRCh37/hg19 1q23.2(chr1:159875152-159930959)x1	IGSF9, SLAMF9 +1 more	Copy number loss	not provided	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 791817	NM_033438.4(SLAMF9):c.95C>T (p.Ala32Val)	SLAMF9 (A32V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782393	NM_033438.4(SLAMF9):c.541G>A (p.Glu181Lys)	SLAMF9 (E181K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 777951	NM_033438.4(SLAMF9):c.81C>T (p.Ser27=)	SLAMF9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767714	NM_033438.4(SLAMF9):c.256G>A (p.Val86Met)	SLAMF9 (V86M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712090	NM_033438.4(SLAMF9):c.453T>C (p.Ser151=)	SLAMF9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709553	NM_033438.4(SLAMF9):c.490G>C (p.Asp164His)	SLAMF9 (D164H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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
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

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Links from Gene

Items: 32