CD300E[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59732	GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign
Select item 160836	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 152569	GRCh38/hg38 17q25.1(chr17:73851698-74651858)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign/Likely benign
Select item 59733	GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3	BTBD17, CD300A +44 more	Copy number gain	See cases	GBenign
Select item 32717	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 145427	GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 150454	GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3	BTBD17, CD300A +39 more	Copy number gain	See cases	GLikely benign
Select item 3140520	NM_181449.3(CD300E):c.529G>A (p.Val177Met)	CD300E, LOC101928343 (V177M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407261	NM_181449.3(CD300E):c.503G>A (p.Arg168Gln)	CD300E, LOC101928343 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351332	NM_181449.3(CD300E):c.478G>A (p.Val160Met)	CD300E, LOC101928343 (V160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518907	NM_181449.3(CD300E):c.450C>A (p.Asn150Lys)	CD300E, LOC101928343 (N150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242408	NM_181449.3(CD300E):c.379G>A (p.Val127Ile)	CD300E, LOC101928343 (V127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140519	NM_181449.3(CD300E):c.167C>T (p.Thr56Met)	CD300E, LOC101928343 (T56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285855	NM_181449.3(CD300E):c.152G>T (p.Arg51Leu)	CD300E, LOC101928343 (R51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589880	NM_181449.3(CD300E):c.148T>C (p.Cys50Arg)	CD300E, LOC101928343 (C50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140517	NM_181449.3(CD300E):c.115G>A (p.Glu39Lys)	CD300E, LOC101928343 (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462629	NM_181449.3(CD300E):c.83C>T (p.Ala28Val)	CD300E, LOC101928343 (A28V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560067	NM_181449.3(CD300E):c.48G>C (p.Leu16Phe)	CD300E, LOC101928343 (L16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340830	GRCh37/hg19 17q25.1(chr17:71813960-72707349)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 815950	GRCh37/hg19 17q25.1(chr17:71811005-72681118)x3	BTBD17, CD300A +12 more	Copy number gain	not provided	GLikely benign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564470	GRCh37/hg19 17q25.1(chr17:71810700-72702515)x3	BTBD17, CD300A +13 more	Copy number gain	not provided	GLikely benign
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393984	GRCh37/hg19 17q25.1(chr17:71940807-72667784)x3	BTBD17, CD300A +12 more	Copy number gain	See cases	GLikely benign

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Items: 33