ClinVar for Gene (Select 6504) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162722	NM_003037.5(SLAMF1):c.911C>T (p.Thr304Ile)	SLAMF1 (P332S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162721	NM_003037.5(SLAMF1):c.904C>G (p.Pro302Ala)	SLAMF1 (P302A)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3162720	NM_003037.5(SLAMF1):c.298C>A (p.Leu100Met)	SLAMF1 (L100M)	Single nucleotide variant (missense 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 2537557	NM_003037.5(SLAMF1):c.797C>T (p.Thr266Met)	SLAMF1 (R294* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2398408	NM_003037.5(SLAMF1):c.689C>T (p.Thr230Ile)	SLAMF1 (T230I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282597	NM_003037.5(SLAMF1):c.923T>C (p.Val308Ala)	SLAMF1 (V308A)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2242104	NM_003037.5(SLAMF1):c.584C>T (p.Ser195Phe)	SLAMF1 (S195F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216623	NM_003037.5(SLAMF1):c.686G>A (p.Arg229Lys)	SLAMF1 (R229K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 726708	NM_003037.5(SLAMF1):c.212A>G (p.Glu71Gly)	SLAMF1 (E71G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 720023	NM_003037.5(SLAMF1):c.916A>G (p.Ile306Val)	SLAMF1 (I306V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 717815	NM_003037.5(SLAMF1):c.943C>T (p.Pro315Ser)	SLAMF1 (P315S)	Single nucleotide variant (synonymous variant +2 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 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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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: 25