ClinVar for Gene (Select 10871) - ClinVar

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

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264812	NM_006678.5(CD300C):c.385G>T (p.Val129Leu)	CD300C (V129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264811	NM_006678.5(CD300C):c.407C>T (p.Thr136Met)	CD300C (T136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	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 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	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40