CD300LD-AS1[gene] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +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 3264813	NM_001115152.2(CD300LD):c.356A>G (p.Lys119Arg)	CD300LD, CD300LD-AS1 (K119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648225	NM_001115152.2(CD300LD):c.285G>A (p.Glu95=)	CD300LD, CD300LD-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2519683	NM_001115152.2(CD300LD):c.280A>G (p.Met94Val)	CD300LD, CD300LD-AS1 (M94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304284	NM_001115152.2(CD300LD):c.169G>A (p.Asp57Asn)	CD300LD, CD300LD-AS1 (D57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140526	NM_001115152.2(CD300LD):c.166G>A (p.Ala56Thr)	CD300LD, CD300LD-AS1 (A56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471115	NM_001115152.2(CD300LD):c.97G>A (p.Gly33Ser)	CD300LD, CD300LD-AS1 (G33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140531	NR_171003.1(CD300LD-AS1):n.693C>T	CD300LD, CD300LD-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29