SLAM - ClinVar

Search results

Items: 87

	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 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 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 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 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 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 782393	NM_033438.4(SLAMF9):c.541G>A (p.Glu181Lys)	SLAMF9 (E181K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 709553	NM_033438.4(SLAMF9):c.490G>C (p.Asp164His)	SLAMF9 (D164H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 712090	NM_033438.4(SLAMF9):c.453T>C (p.Ser151=)	SLAMF9	Single nucleotide variant (synonymous variant +1 more)	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 2268585	NM_033438.4(SLAMF9):c.254A>G (p.Gln85Arg)	SLAMF9 (Q85R)	Single nucleotide variant (missense variant)	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 791817	NM_033438.4(SLAMF9):c.95C>T (p.Ala32Val)	SLAMF9 (A32V)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 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 3318769	NM_001184714.2(SLAMF6):c.277T>G (p.Ser93Ala)	SLAMF6 (S44A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318767	NM_001184714.2(SLAMF6):c.215G>A (p.Ser72Asn)	SLAMF6 (S23N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318768	NM_001184714.2(SLAMF6):c.137C>A (p.Ala46Glu)	SLAMF6 (A46E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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	TAGLN2, TOMM40L +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	ANKRD45, BRINP3 +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
Select item 10910	NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu)	SH2D1A (R55L)	Single nucleotide variant (missense variant)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic

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Items: 87