29369[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 3186721	NM_001080419.3(UNK):c.103A>C (p.Thr35Pro)	UNK (T35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2776146	NM_001080419.3(UNK):c.104+23del	UNK	Deletion (intron variant)	not provided	GBenign
Select item 2518057	NM_001080419.3(UNK):c.132G>T (p.Gln44His)	UNK (Q44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186725	NM_001080419.3(UNK):c.209G>A (p.Arg70Gln)	UNK (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254227	NM_001080419.3(UNK):c.734G>A (p.Arg245Gln)	UNK (R245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340699	NM_001080419.3(UNK):c.809G>C (p.Gly270Ala)	UNK (G270A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379952	NM_001080419.3(UNK):c.823G>A (p.Gly275Arg)	UNK (G275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1331637	NM_001080419.3(UNK):c.961C>T (p.Gln321Ter)	UNK (Q321*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 775334	NM_001080419.3(UNK):c.1105-9T>C	UNK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2383031	NM_001080419.3(UNK):c.1130G>C (p.Gly377Ala)	UNK (G377A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331111	NM_001080419.3(UNK):c.1177C>T (p.Pro393Ser)	UNK (P393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331107	NM_001080419.3(UNK):c.1198G>A (p.Val400Ile)	UNK (V400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592285	NM_001080419.3(UNK):c.1213T>C (p.Ser405Pro)	UNK (S405P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331110	NM_001080419.3(UNK):c.1255G>A (p.Glu419Lys)	UNK (E419K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186723	NM_001080419.3(UNK):c.1349A>G (p.Gln450Arg)	UNK (Q450R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331109	NM_001080419.3(UNK):c.1480G>A (p.Val494Ile)	UNK (V494I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775335	NM_001080419.3(UNK):c.1485C>T (p.Pro495=)	UNK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309387	NM_001080419.3(UNK):c.1501G>A (p.Ala501Thr)	UNK (A501T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331112	NM_001080419.3(UNK):c.1568A>G (p.Asp523Gly)	UNK (D523G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384140	NM_001080419.3(UNK):c.1585G>A (p.Val529Met)	UNK (V529M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186724	NM_001080419.3(UNK):c.1831T>C (p.Ser611Pro)	UNK (S611P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249980	NM_001080419.3(UNK):c.2030C>T (p.Ala677Val)	UNK (A677V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289656	NM_001080419.3(UNK):c.2056G>A (p.Gly686Ser)	UNK (G686S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233449	NM_001080419.3(UNK):c.2072C>T (p.Ala691Val)	UNK (A691V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297304	NM_001080419.3(UNK):c.2078G>A (p.Gly693Asp)	UNK (G693D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544353	NM_001080419.3(UNK):c.2083G>A (p.Glu695Lys)	UNK (E695K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295875	NM_001080419.3(UNK):c.2098C>T (p.Arg700Trp)	UNK (R700W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186726	NM_001080419.3(UNK):c.2179C>A (p.Gln727Lys)	UNK (Q727K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250141	NM_001080419.3(UNK):c.2182G>A (p.Ala728Thr)	UNK (A728T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249908	NM_001080419.3(UNK):c.2183C>A (p.Ala728Asp)	UNK (A728D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186727	NM_001080419.3(UNK):c.2191G>A (p.Ala731Thr)	UNK (A731T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558934	NM_001080419.3(UNK):c.2252G>A (p.Arg751Gln)	UNK (R751Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539491	NM_001080419.3(UNK):c.2297C>T (p.Ser766Leu)	UNK (S766L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591834	NM_001080419.3(UNK):c.2309T>G (p.Leu770Arg)	UNK (L770R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348643	NM_001080419.3(UNK):c.2386G>A (p.Glu796Lys)	UNK (E796K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338771	NM_001080419.3(UNK):c.2429C>T (p.Ser810Leu)	UNK (S810L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243041	NC_000017.10:g.(?_73720784)_(73975154_?)dup	UNC13D, TRIM65 +9 more	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
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 687680	GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3	ACOX1, FBF1 +13 more	Copy number gain	not provided	GUncertain significance
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 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
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 443158	GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3	ACOX1, FBF1 +9 more	Copy number gain	See cases	GUncertain significance
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

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Items: 54