344807[Gene ID] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 2482738	NM_001199215.3(CD200R1L):c.734A>G (p.His245Arg)	CD200R1L, CD200R1L-AS1 (H245R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594172	NM_001199215.3(CD200R1L):c.685G>A (p.Val229Met)	CD200R1L, CD200R1L-AS1 (V250M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2241029	NM_001199215.3(CD200R1L):c.683T>C (p.Phe228Ser)	CD200R1L, CD200R1L-AS1 (F228S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140425	NM_001199215.3(CD200R1L):c.679C>G (p.Leu227Val)	CD200R1L, CD200R1L-AS1 (L248V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2219335	NM_001199215.3(CD200R1L):c.635C>G (p.Ser212Cys)	CD200R1L, CD200R1L-AS1 (S212C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2297786	NM_001199215.3(CD200R1L):c.623G>A (p.Arg208Lys)	CD200R1L, CD200R1L-AS1 (R229K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2293941	NM_001199215.3(CD200R1L):c.619C>T (p.Leu207Phe)	CD200R1L, CD200R1L-AS1 (L207F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140424	NM_001199215.3(CD200R1L):c.601G>A (p.Val201Ile)	CD200R1L (V201I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140423	NM_001199215.3(CD200R1L):c.580A>T (p.Thr194Ser)	CD200R1L (T194S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326404	NM_001199215.3(CD200R1L):c.579G>C (p.Leu193Phe)	CD200R1L (L214F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513782	NM_001199215.3(CD200R1L):c.554C>T (p.Thr185Ile)	CD200R1L (T185I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524416	NM_001199215.3(CD200R1L):c.542G>T (p.Gly181Val)	CD200R1L (G181V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140422	NM_001199215.3(CD200R1L):c.421G>A (p.Ala141Thr)	CD200R1L (A141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467376	NM_001199215.3(CD200R1L):c.343C>T (p.Arg115Cys)	CD200R1L (R115C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279417	NM_001199215.3(CD200R1L):c.338T>G (p.Phe113Cys)	CD200R1L (F134C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314491	NM_001199215.3(CD200R1L):c.299G>A (p.Gly100Glu)	CD200R1L (G100E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140421	NM_001199215.3(CD200R1L):c.287C>T (p.Thr96Ile)	CD200R1L (T117I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264768	NM_001199215.3(CD200R1L):c.281T>G (p.Val94Gly)	CD200R1L (V94G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238317	NM_001199215.3(CD200R1L):c.262G>C (p.Asp88His)	CD200R1L (D88H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264767	NM_001199215.3(CD200R1L):c.230T>G (p.Ile77Arg)	CD200R1L (I77R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264769	NM_001199215.3(CD200R1L):c.197A>G (p.Glu66Gly)	CD200R1L (E66G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140420	NM_001199215.3(CD200R1L):c.179A>G (p.Tyr60Cys)	CD200R1L (Y60C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203932	NM_001199215.3(CD200R1L):c.109G>A (p.Ala37Thr)	CD200R1L (A37T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528038	NM_001199215.3(CD200R1L):c.107T>C (p.Ile36Thr)	CD200R1L (I57T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140419	NM_001199215.3(CD200R1L):c.88G>A (p.Val30Met)	CD200R1L (V30M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685929	GRCh37/hg19 3q13.2(chr3:111845309-112880225)x3	ATG3, BTLA +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 686372	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 686136	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	BOC, CCDC191 +22 more	Copy number loss	not provided	GPathogenic
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 55