ClinVar for Gene (Select 114836) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162727	NM_001184714.2(SLAMF6):c.977C>T (p.Thr326Ile)	SLAMF6 (T326I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162726	NM_001184714.2(SLAMF6):c.962C>T (p.Thr321Ile)	SLAMF6 (T210I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162725	NM_001184714.2(SLAMF6):c.94G>A (p.Gly32Arg)	SLAMF6 (G32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162724	NM_001184714.2(SLAMF6):c.685T>C (p.Phe229Leu)	LOC126805892, SLAMF6 (F229L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162723	NM_001184714.2(SLAMF6):c.590C>T (p.Ala197Val)	LOC126805892, SLAMF6 (A148V +2 more)	Single nucleotide variant (missense variant)	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 2589636	NM_001184714.2(SLAMF6):c.994G>A (p.Val332Met)	SLAMF6 (V282M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492264	NM_001184714.2(SLAMF6):c.539C>A (p.Thr180Asn)	LOC126805892, SLAMF6 (T69N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469751	NM_001184714.2(SLAMF6):c.643G>A (p.Glu215Lys)	LOC126805892, SLAMF6 (E104K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459334	NM_001184714.2(SLAMF6):c.715G>A (p.Gly239Ser)	LOC126805892, SLAMF6 (G128S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303615	NM_001184714.2(SLAMF6):c.728T>C (p.Leu243Pro)	LOC126805892, SLAMF6 (L243P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280399	NM_001184714.2(SLAMF6):c.682C>A (p.Leu228Met)	LOC126805892, SLAMF6 (L179M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241575	NM_001184714.2(SLAMF6):c.888A>T (p.Glu296Asp)	SLAMF6 (E246D +3 more)	Single nucleotide variant (missense variant)	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	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26