ClinVar for Gene (Select 10871) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140516	NM_006678.5(CD300C):c.548G>A (p.Arg183His)	CD300C (R183H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140515	NM_006678.5(CD300C):c.508G>A (p.Glu170Lys)	CD300C (E170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140514	NM_006678.5(CD300C):c.469G>A (p.Val157Met)	CD300C (V157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140513	NM_006678.5(CD300C):c.404G>A (p.Gly135Glu)	CD300C (G135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617219	NM_006678.5(CD300C):c.458C>T (p.Thr153Met)	CD300C (T153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559227	NM_006678.5(CD300C):c.491C>T (p.Thr164Ile)	CD300C (T164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401164	NM_006678.5(CD300C):c.277T>C (p.Phe93Leu)	CD300C (F93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392139	NM_006678.5(CD300C):c.176C>A (p.Pro59Gln)	CD300C (P59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360834	NM_006678.5(CD300C):c.203T>C (p.Ile68Thr)	CD300C (I68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343945	NM_006678.5(CD300C):c.353G>A (p.Arg118Gln)	CD300C (R118Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324098	NM_006678.5(CD300C):c.118A>G (p.Ser40Gly)	CD300C (S40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250082	NM_006678.5(CD300C):c.376G>A (p.Glu126Lys)	CD300C (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247775	NM_006678.5(CD300C):c.590G>C (p.Ser197Thr)	CD300C (S197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246420	NM_006678.5(CD300C):c.344C>T (p.Pro115Leu)	CD300C (P115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244623	NM_006678.5(CD300C):c.71C>T (p.Pro24Leu)	CD300C (P24L)	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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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	KIF19, RAB37 +12 more	Copy number gain	See cases	GLikely benign
Select item 393882	GRCh37/hg19 17q25.1(chr17:72537226-72541067)x3	CD300C	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 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	ABCA10, ADAM11 +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	LOC130061805, LOC130061806 +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: 38