CD48[gene] - ClinVar

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Items: 38

	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 2639504	NM_001778.4(CD48):c.699G>A (p.Thr233=)	CD48	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288671	NM_001778.4(CD48):c.686G>C (p.Trp229Ser)	CD48 (W229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789153	NM_001778.4(CD48):c.652+73G>T	CD48 (G242V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3264847	NM_001778.4(CD48):c.634A>G (p.Ser212Gly)	CD48 (S212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592758	NM_001778.4(CD48):c.607A>G (p.Ser203Gly)	CD48 (S203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140607	NM_001778.4(CD48):c.592G>A (p.Val198Ile)	CD48 (V198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528148	NM_001778.4(CD48):c.575G>T (p.Arg192Met)	CD48 (R192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386900	NM_001778.4(CD48):c.466A>G (p.Ile156Val)	CD48 (I156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492485	NM_001778.4(CD48):c.377A>G (p.Gln126Arg)	CD48 (Q126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328450	NM_001778.4(CD48):c.374T>A (p.Leu125Gln)	CD48 (L125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400936	NM_001778.4(CD48):c.343A>T (p.Thr115Ser)	CD48 (T115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610058	NM_001778.4(CD48):c.327G>A (p.Met109Ile)	CD48 (M109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767716	NM_001778.4(CD48):c.270G>A (p.Gln90=)	CD48	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545552	NM_001778.4(CD48):c.246A>T (p.Lys82Asn)	CD48 (K82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140606	NM_001778.4(CD48):c.236C>A (p.Ser79Tyr)	CD48 (S79Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639505	NM_001778.4(CD48):c.205T>C (p.Trp69Arg)	CD48 (W69R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2606983	NM_001778.4(CD48):c.181A>G (p.Thr61Ala)	CD48 (T61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613362	NM_001778.4(CD48):c.179A>G (p.Tyr60Cys)	CD48 (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242409	NM_001778.4(CD48):c.131A>T (p.Asn44Ile)	CD48 (N44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140603	NM_001778.4(CD48):c.121G>A (p.Val41Met)	CD48 (V41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780270	NM_001778.4(CD48):c.88T>C (p.Leu30=)	CD48	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3264846	NM_001778.4(CD48):c.81A>T (p.Gln27His)	CD48 (Q27H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264848	NM_001778.4(CD48):c.76A>C (p.Ile26Leu)	CD48 (I26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473431	NM_001778.4(CD48):c.62T>G (p.Leu21Arg)	CD48 (L21R)	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 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	NUCKS1, NUDT17 +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: 38