1507[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 162164	NM_017918.5(MCUB):c.451+4929G>T	CASP6, MCUB	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2268496	NM_017918.5(MCUB):c.959G>A (p.Arg320His)	MCUB, CASP6 (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137621	NM_001226.4(CASP6):c.802A>G (p.Ser268Gly)	CASP6 (S268G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263434	NM_001226.4(CASP6):c.779G>A (p.Arg260Gln)	CASP6 (R171Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263437	NM_001226.4(CASP6):c.772C>G (p.Gln258Glu)	CASP6 (Q169E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298601	NM_001226.4(CASP6):c.623T>C (p.Met208Thr)	CASP6 (M208T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137619	NM_001226.4(CASP6):c.589G>A (p.Val197Ile)	CASP6 (V108I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263436	NM_001226.4(CASP6):c.530T>C (p.Val177Ala)	CASP6 (V177A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2264480	NM_001226.4(CASP6):c.494G>T (p.Gly165Val)	CASP6 (G76V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137618	NM_001226.4(CASP6):c.359G>C (p.Ser120Thr)	CASP6 (S120T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389918	NM_001226.4(CASP6):c.227G>A (p.Arg76His)	CASP6 (R76H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228692	NM_001226.4(CASP6):c.226C>T (p.Arg76Cys)	CASP6 (R76C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262671	NM_001226.4(CASP6):c.172C>T (p.His58Tyr)	CASP6 (H58Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137617	NM_001226.4(CASP6):c.157G>C (p.Glu53Gln)	CASP6 (E53Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3246704	NC_000004.11:g.(?_110481494)_(111554154_?)dup	CASP6, CFI +9 more	Duplication	not provided	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 686808	GRCh37/hg19 4q25(chr4:110386827-110660498)x3	CASP6, MCUB +2 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 27