C0342870[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 904213	NM_000414.3(HSD17B4):c.-130C>T	HSD17B4	Single nucleotide variant	Perrault syndrome 1 +1 more	GUncertain significance
Select item 904214	NM_000414.3(HSD17B4):c.-119C>G	HSD17B4	Single nucleotide variant	Perrault syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 904215	NM_000414.4(HSD17B4):c.-75C>A	HSD17B4	Single nucleotide variant (5 prime UTR variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 350457	NM_000414.4(HSD17B4):c.-75C>G	HSD17B4	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 350458	NM_000414.4(HSD17B4):c.-28C>T	HSD17B4	Single nucleotide variant (5 prime UTR variant)	Perrault syndrome 1 +2 more	GBenign/Likely benign
Select item 350459	NM_000414.4(HSD17B4):c.-27G>C	HSD17B4	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 7655	NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	HSD17B4, LOC129994460 (G16S)	Single nucleotide variant (missense variant +1 more)	HSD17B4-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 904999	NM_000414.4(HSD17B4):c.112+11G>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 350460	NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp)	HSD17B4 (A54D +3 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 594737	NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly)	HSD17B4 (E77G +3 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +3 more	GUncertain significance
Select item 350461	NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu)	HSD17B4 (F90L +3 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome +2 more	GUncertain significance
Select item 198079	NM_000414.4(HSD17B4):c.317G>A (p.Arg106His)	HSD17B4 (R106H +3 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GBenign
Select item 906584	NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)	HSD17B4 (V106M +4 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 226672	NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn)	HSD17B4 (K140N +5 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +4 more	GBenign
Select item 907603	NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)	HSD17B4 (Q186P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 681160	NM_000414.4(HSD17B4):c.622+5G>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +4 more	GConflicting classifications of pathogenicity
Select item 907604	NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)	HSD17B4 (P106T +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome +3 more	GUncertain significance
Select item 199018	NM_000414.4(HSD17B4):c.666C>G (p.Val222=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	HSD17B4-related condition +5 more	GBenign/Likely benign
Select item 226673	NM_000414.4(HSD17B4):c.715-13C>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome 1 +4 more	GBenign/Likely benign
Select item 350462	NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg)	HSD17B4 (G240R +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 904272	NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)	HSD17B4 (M117V +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GUncertain significance
Select item 350463	NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr)	HSD17B4 (A271T +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +3 more	GConflicting classifications of pathogenicity
Select item 905064	NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)	HSD17B4 (A145P +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 226674	NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)	HSD17B4 (T292S +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GBenign/Likely benign
Select item 350464	NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys)	HSD17B4 (R315C +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GUncertain significance
Select item 283769	NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)	HSD17B4	Single nucleotide variant (synonymous variant)	Perrault syndrome +4 more	GBenign/Likely benign
Select item 228741	NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)	HSD17B4 (T317M +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +5 more	GConflicting classifications of pathogenicity
Select item 597002	NM_000414.4(HSD17B4):c.951G>A (p.Thr317=)	HSD17B4	Single nucleotide variant (synonymous variant)	Perrault syndrome +3 more	GConflicting classifications of pathogenicity
Select item 595490	NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe)	HSD17B4 (L332F +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 226664	NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome 1 +4 more	GBenign
Select item 350465	NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)	HSD17B4	Single nucleotide variant (synonymous variant)	HSD17B4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 227432	NM_000414.4(HSD17B4):c.1210-8T>C	HSD17B4	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 522929	NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe)	HSD17B4 (L405F +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +3 more	GUncertain significance
Select item 904346	NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 350466	NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe)	HSD17B4 (L453F +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GUncertain significance
Select item 252564	NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp)	HSD17B4 (R473W +4 more)	Single nucleotide variant (missense variant)	Bifunctional peroxisomal enzyme deficiency +5 more	GUncertain significance
Select item 194706	NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)	HSD17B4 (A491T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 226665	NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)	HSD17B4 (W511R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 226666	NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)	HSD17B4 (S522R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 350467	NM_000414.4(HSD17B4):c.1596T>C (p.His532=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	HSD17B4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 350468	NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)	HSD17B4 (R543H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 226667	NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)	HSD17B4 (I559V +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome +4 more	GBenign
Select item 906728	NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 195459	NM_000414.4(HSD17B4):c.1767+8T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +5 more	GBenign/Likely benign
Select item 226668	NM_000414.4(HSD17B4):c.1791C>T (p.Val597=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +3 more	GBenign
Select item 350469	NM_000414.4(HSD17B4):c.1854+7T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 624058	NM_000414.4(HSD17B4):c.1929G>A (p.Val643=)	HSD17B4	Single nucleotide variant (synonymous variant)	Perrault syndrome +4 more	GConflicting classifications of pathogenicity
Select item 907737	NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)	HSD17B4 (K505T +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 350470	NM_000414.4(HSD17B4):c.2025G>A (p.Val675=)	HSD17B4	Single nucleotide variant (synonymous variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GConflicting classifications of pathogenicity
Select item 904408	NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp)	HSD17B4 (G703D +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 226669	NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)	HSD17B4 (T687I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign
Select item 226670	NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val)	HSD17B4 (M728V +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GBenign
Select item 226671	NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GBenign
Select item 226663	NM_000414.4(HSD17B4):c.*6A>G	HSD17B4	Single nucleotide variant (3 prime UTR variant +1 more)	Perrault syndrome 1 +3 more	GBenign
Select item 350471	NM_000414.4(HSD17B4):c.*83T>G	HSD17B4	Single nucleotide variant (3 prime UTR variant)	Perrault syndrome 1 +1 more	GLikely benign
Select item 905207	NM_000414.4(HSD17B4):c.*123A>G	HSD17B4	Single nucleotide variant (3 prime UTR variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 350472	NM_000414.4(HSD17B4):c.*134C>T	HSD17B4	Single nucleotide variant (3 prime UTR variant)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 350473	NM_000414.4(HSD17B4):c.*135T>G	HSD17B4	Single nucleotide variant (3 prime UTR variant)	Perrault syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 350474	NM_000414.4(HSD17B4):c.*235T>C	HSD17B4	Single nucleotide variant (3 prime UTR variant)	Perrault syndrome +1 more	GUncertain significance
Select item 350475	NM_000414.4(HSD17B4):c.*250dup	HSD17B4	Duplication (3 prime UTR variant)	Perrault syndrome +2 more	GBenign
Select item 350476	NM_000414.4(HSD17B4):c.*260A>G	HSD17B4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 350477	NM_000414.4(HSD17B4):c.*278T>A	HSD17B4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 62