ClinVar for Gene (Select 79071) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2611014	NM_024090.3(ELOVL6):c.382A>G (p.Ile128Val)	ELOVL6, LOC126807135 (I128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588497	NM_024090.3(ELOVL6):c.763A>G (p.Ile255Val)	ELOVL6, LOC126807135 (I255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558805	NM_024090.3(ELOVL6):c.517G>A (p.Val173Met)	ELOVL6, LOC126807135 (V173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287718	NM_024090.3(ELOVL6):c.709C>T (p.Leu237Phe)	ELOVL6, LOC126807135 (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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
Select item 156929	NM_024090.2(ELOVL6):c.-68192_89+40066dup	ELOVL6, LOC116158506 +3 more	Duplication	Small for gestational age	Gnot provided
Select item 149134	GRCh38/hg38 4q25(chr4:110024303-110313915)x1	ELOVL6, LOC116158506 +9 more	Copy number loss	See cases	GUncertain significance
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic