ClinVar for Gene (Select 11314) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264810	NM_007261.4(CD300A):c.519G>T (p.Glu173Asp)	CD300A (E173D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264809	NM_007261.4(CD300A):c.6G>C (p.Trp2Cys)	CD300A (W2C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264807	NM_007261.4(CD300A):c.757G>T (p.Val253Leu)	CD300A (V123L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264806	NM_007261.4(CD300A):c.37C>G (p.Pro13Ala)	CD300A (P13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140512	NM_007261.4(CD300A):c.859G>A (p.Glu287Lys)	CD300A (E138K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140511	NM_007261.4(CD300A):c.796C>T (p.His266Tyr)	CD300A (H117Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140510	NM_007261.4(CD300A):c.784A>G (p.Arg262Gly)	CD300A (R113G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140509	NM_007261.4(CD300A):c.407T>C (p.Ile136Thr)	CD300A (I136T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140507	NM_007261.4(CD300A):c.189G>C (p.Glu63Asp)	CD300A (E63D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3140506	NM_007261.4(CD300A):c.15G>T (p.Trp5Cys)	CD300A (W5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552881	NM_007261.4(CD300A):c.16G>A (p.Ala6Thr)	CD300A (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531282	NM_007261.4(CD300A):c.8T>A (p.Leu3Gln)	CD300A (L3Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513102	NM_007261.4(CD300A):c.88G>A (p.Gly30Arg)	CD300A (G30R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2482447	NM_007261.4(CD300A):c.854G>A (p.Arg285Gln)	CD300A (R172Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479191	NM_007261.4(CD300A):c.434C>G (p.Thr145Arg)	CD300A (T145R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475561	NM_007261.4(CD300A):c.52C>G (p.Leu18Val)	CD300A (L18V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2472922	NM_007261.4(CD300A):c.70G>A (p.Val24Met)	CD300A (V24M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2390504	NM_007261.4(CD300A):c.377C>A (p.Pro126Gln)	CD300A (P126Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2291462	NM_007261.4(CD300A):c.835A>T (p.Ile279Leu)	CD300A (I279L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290695	NM_007261.4(CD300A):c.607A>G (p.Met203Val)	CD300A (M90V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256819	NM_007261.4(CD300A):c.323C>T (p.Pro108Leu)	CD300A (P108L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2210636	NM_007261.4(CD300A):c.293C>G (p.Ala98Gly)	CD300A (A98G)	Single nucleotide variant (5 prime UTR variant +2 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
Select item 160836	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
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 152569	GRCh38/hg38 17q25.1(chr17:73851698-74651858)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign/Likely benign
Select item 150454	GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3	BTBD17, CD300A +39 more	Copy number gain	See cases	GLikely benign
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 145427	GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 59733	GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3	BTBD17, CD300A +44 more	Copy number gain	See cases	GBenign
Select item 59732	GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign
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 32717	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GConflicting classifications of pathogenicity

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Links from Gene

Items: 44