ClinVar for Gene (Select 146894) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140545	NM_145273.4(CD300LG):c.994G>T (p.Ala332Ser)	CD300LG (A247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140544	NM_145273.4(CD300LG):c.85G>A (p.Glu29Lys)	CD300LG (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140543	NM_145273.4(CD300LG):c.797C>T (p.Ala266Val)	CD300LG (A232V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140542	NM_145273.4(CD300LG):c.721G>T (p.Val241Leu)	CD300LG (V241L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140541	NM_145273.4(CD300LG):c.521A>C (p.Gln174Pro)	CD300LG (Q140P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140540	NM_145273.4(CD300LG):c.434G>A (p.Arg145His)	CD300LG (R145H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140539	NM_145273.4(CD300LG):c.410C>A (p.Thr137Asn)	CD300LG (T137N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140537	NM_145273.4(CD300LG):c.100T>C (p.Ser34Pro)	CD300LG (S34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602126	NM_145273.4(CD300LG):c.784G>A (p.Ala262Thr)	CD300LG (A228T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600505	NM_145273.4(CD300LG):c.740G>A (p.Arg247His)	CD300LG (R162H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509642	NM_145273.4(CD300LG):c.631G>T (p.Ala211Ser)	CD300LG (A211S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499654	GRCh38/hg38 17q21.31(chr17:43603558-44033313)	CD300LG, CFAP97D1 +29 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2493724	NM_145273.4(CD300LG):c.760G>T (p.Val254Leu)	CD300LG (V169L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492590	NM_145273.4(CD300LG):c.530C>T (p.Thr177Ile)	CD300LG (T177I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489313	NM_145273.4(CD300LG):c.464C>A (p.Thr155Asn)	CD300LG (T155N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485902	NM_145273.4(CD300LG):c.259G>C (p.Glu87Gln)	CD300LG (E87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483063	NM_145273.4(CD300LG):c.559A>G (p.Thr187Ala)	CD300LG (T153A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393111	NM_145273.4(CD300LG):c.901G>A (p.Glu301Lys)	CD300LG (E301K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378330	NM_145273.4(CD300LG):c.649C>G (p.Pro217Ala)	CD300LG (P183A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350268	NM_145273.4(CD300LG):c.767T>C (p.Leu256Pro)	CD300LG (L171P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343021	NM_145273.4(CD300LG):c.917C>A (p.Ala306Asp)	CD300LG (A306D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342058	NM_145273.4(CD300LG):c.862G>A (p.Glu288Lys)	CD300LG (E254K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332378	NM_145273.4(CD300LG):c.700A>T (p.Ser234Cys)	CD300LG (S234C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331095	NM_145273.4(CD300LG):c.64C>T (p.Pro22Ser)	CD300LG (P22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325512	NM_145273.4(CD300LG):c.346G>A (p.Glu116Lys)	CD300LG (E116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307103	NM_145273.4(CD300LG):c.506C>T (p.Ala169Val)	CD300LG (A135V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2295232	NM_145273.4(CD300LG):c.535G>T (p.Ala179Ser)	CD300LG (A145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292723	NM_145273.4(CD300LG):c.139C>G (p.Arg47Gly)	CD300LG (R47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277557	NM_145273.4(CD300LG):c.938C>T (p.Ser313Leu)	CD300LG (S313L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261759	NM_145273.4(CD300LG):c.652A>G (p.Met218Val)	CD300LG (M218V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243080	NM_145273.4(CD300LG):c.335G>A (p.Arg112Gln)	CD300LG (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233515	NM_145273.4(CD300LG):c.650C>T (p.Pro217Leu)	CD300LG (P132L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222378	NM_145273.4(CD300LG):c.181T>G (p.Cys61Gly)	CD300LG (C61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526577	GRCh37/hg19 17q21.31(chr17:41202796-41974964)	ARL4D, BRCA1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 815937	GRCh37/hg19 17q21.31(chr17:41399892-42125780)x3	ARL4D, CD300LG +13 more	Copy number gain	not provided	GUncertain significance
Select item 564447	GRCh37/hg19 17q21.31(chr17:41540257-42044249)x1	CD300LG, CFAP97D1 +9 more	Copy number loss	not provided	GUncertain significance
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 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 154024	GRCh38/hg38 17q21.31(chr17:43322528-43849385)x3	ARL4D, CD300LG +33 more	Copy number gain	See cases	GLikely benign
Select item 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
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 148000	GRCh38/hg38 17q21.31(chr17:43387123-43865083)x3	ARL4D, CD300LG +26 more	Copy number gain	See cases	GUncertain significance
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47