CD302[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 2322491	NM_014880.5(CD302):c.20C>G (p.Pro7Arg)	CD302, LY75-CD302 (P7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315049	NM_014880.5(CD302):c.17T>G (p.Leu6Arg)	CD302, LY75-CD302 (L6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459104	NM_014880.5(CD302):c.13G>A (p.Ala5Thr)	CD302, LY75-CD302 (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2505361	GRCh37/hg19 2q24.2(chr2:159844069-161073462)	BAZ2B, CD302 +7 more	Copy number loss	BAZ2B-related disorder	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526924	GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735)	BAZ2B, CCDC148 +22 more	Copy number loss	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	BAZ2B, CD302 +19 more	Copy number loss	Severe global developmental delay +1 more	GLikely pathogenic
Select item 814334	GRCh37/hg19 2q24.1-24.2(chr2:158925958-162489191)x1	RBMS1, SLC4A10 +16 more	Copy number loss	not provided	GPathogenic
Select item 562594	GRCh37/hg19 2q24.2(chr2:160626842-161174930)x3	CD302, ITGB6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 523686	Single allele	BAZ2B, CD302 +19 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 253763	GRCh37/hg19 2q24.2(chr2:160652699-161149794)x3	RBMS1, CD302 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 22