13386[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 2263272	NM_133494.3(NEK7):c.19G>C (p.Gly7Arg)	NEK7 (G7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527113	NM_133494.3(NEK7):c.56A>G (p.Gln19Arg)	NEK7 (Q19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597305	NM_133494.3(NEK7):c.61G>T (p.Ala21Ser)	NEK7 (A21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299234	NM_133494.3(NEK7):c.124C>T (p.Arg42Cys)	NEK7 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271062	NM_133494.3(NEK7):c.137G>A (p.Ser46Asn)	NEK7 (S46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593087	NM_133494.3(NEK7):c.193G>A (p.Val65Met)	NEK7 (V65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299235	NM_133494.3(NEK7):c.269A>G (p.Asn90Ser)	NEK7 (N90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192307	NM_133494.3(NEK7):c.322A>C (p.Asn108His)	NEK7 (N108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622526	NM_133494.3(NEK7):c.428T>C (p.Val143Ala)	NEK7 (V143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192312	NM_133494.3(NEK7):c.439A>G (p.Ser147Gly)	NEK7 (S147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192315	NM_133494.3(NEK7):c.472A>T (p.Met158Leu)	NEK7 (M158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192322	NM_133494.3(NEK7):c.786C>G (p.His262Gln)	NEK7 (H262Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240450	NM_133494.3(NEK7):c.851A>G (p.Asp284Gly)	NEK7 (D284G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 686360	GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1	ASPM, ATP6V1G3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 34