C0685838[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1404257	NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln)	LARS2, LARS2-AS1 (R453Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 55871	NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)	LARS2, LARS2-AS1 (T522N)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 859562	NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)	HSD17B4 (M1L)	Single nucleotide variant (missense variant +3 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2937723	NM_000414.4(HSD17B4):c.6C>G (p.Gly2=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 1147998	NM_000414.4(HSD17B4):c.6C>T (p.Gly2=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 504834	NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)	HSD17B4 (P4R)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1659441	NM_000414.4(HSD17B4):c.12G>T (p.Pro4=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1112570	NM_000414.4(HSD17B4):c.12G>A (p.Pro4=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1159066	NM_000414.4(HSD17B4):c.13C>T (p.Leu5=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 598584	NM_000414.4(HSD17B4):c.15G>A (p.Leu5=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1107030	NM_000414.4(HSD17B4):c.21C>T (p.Phe7=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 501469	NM_000414.4(HSD17B4):c.27G>A (p.Gly9=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1955793	NM_000414.4(HSD17B4):c.30G>A (p.Arg10=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2170380	NM_000414.4(HSD17B4):c.33G>T (p.Val11=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 1106190	NM_000414.4(HSD17B4):c.39G>T (p.Leu13=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1921189	NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)	HSD17B4, LOC129994460 (T15I)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +1 more	GUncertain significance
Select item 1140489	NM_000414.4(HSD17B4):c.45C>T (p.Thr15=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely 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 disorder +4 more	GPathogenic/Likely pathogenic
Select item 2010040	NM_000414.4(HSD17B4):c.48C>A (p.Gly16=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2928469	NM_000414.4(HSD17B4):c.51G>A (p.Ala17=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 742709	NM_000414.4(HSD17B4):c.51G>T (p.Ala17=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1121026	NM_000414.4(HSD17B4):c.54G>A (p.Gly18=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +2 more	GLikely benign
Select item 1459623	NM_000414.4(HSD17B4):c.58+1G>T	LOC129994460, HSD17B4	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 945823	NM_000414.4(HSD17B4):c.58+1G>C	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 1085573	NM_000414.4(HSD17B4):c.58+7A>G	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2101498	NM_000414.4(HSD17B4):c.58+11_58+35del	HSD17B4, LOC129994460	Deletion (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1079686	NM_000414.4(HSD17B4):c.58+10C>T	LOC129994460, HSD17B4	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2953013	NM_000414.4(HSD17B4):c.58+14G>A	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2934312	NM_000414.4(HSD17B4):c.58+15G>T	HSD17B4	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2943506	NM_000414.4(HSD17B4):c.58+16T>A	HSD17B4	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1153471	NM_000414.4(HSD17B4):c.59-8T>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2931202	NM_000414.4(HSD17B4):c.59-5A>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2949297	NM_000414.4(HSD17B4):c.59-4T>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2140091	NM_000414.4(HSD17B4):c.59-3T>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 2676161	NM_000414.4(HSD17B4):c.59-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant +1 more)	Perrault syndrome +1 more	GLikely pathogenic
Select item 2006227	NM_000414.4(HSD17B4):c.61T>C (p.Leu21=)	HSD17B4 (I24T)	Single nucleotide variant (synonymous variant +4 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2142016	NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly)	HSD17B4 (R23G +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 371607	NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)	HSD17B4 (P26L +1 more)	Single nucleotide variant (nonsense +3 more)	Bifunctional peroxisomal enzyme deficiency +3 more	GPathogenic/Likely pathogenic
Select item 1448679	NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln)	HSD17B4 (R23Q)	Single nucleotide variant (missense variant +4 more)	Perrault syndrome 1 +2 more	GUncertain significance
Select item 1121587	NM_000414.4(HSD17B4):c.72C>T (p.Ala24=)	HSD17B4	Single nucleotide variant (synonymous variant +3 more)	Perrault syndrome +1 more	GLikely benign
Select item 1994644	NM_000414.4(HSD17B4):c.75T>C (p.Tyr25=)	HSD17B4 (C29R)	Single nucleotide variant (synonymous variant +4 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1081461	NM_000414.4(HSD17B4):c.78C>T (p.Ala26=)	HSD17B4 (P30S)	Single nucleotide variant (synonymous variant +4 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1660441	NM_000414.4(HSD17B4):c.81G>A (p.Leu27=)	HSD17B4 (G31S)	Single nucleotide variant (synonymous variant +4 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1101486	NM_000414.4(HSD17B4):c.81G>T (p.Leu27=)	HSD17B4 (G31C)	Single nucleotide variant (synonymous variant +4 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1379432	NM_000414.4(HSD17B4):c.84T>G (p.Ala28=)	HSD17B4 (F32V)	Single nucleotide variant (synonymous variant +4 more)	Perrault syndrome +1 more	GLikely benign
Select item 595596	NM_000414.4(HSD17B4):c.99A>G (p.Gly33=)	HSD17B4 (S37G)	Single nucleotide variant (synonymous variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137616	NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)	HSD17B4 (A34V)	Single nucleotide variant (missense variant +3 more)	Bifunctional peroxisomal enzyme deficiency +3 more	GConflicting classifications of pathogenicity
Select item 554819	NM_000414.4(HSD17B4):c.102G>A (p.Ala34=)	HSD17B4 (V38I)	Single nucleotide variant (synonymous variant +3 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 504931	NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile)	HSD17B4 (C40Y +1 more)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GConflicting classifications of pathogenicity
Select item 500651	NM_000414.4(HSD17B4):c.112+8G>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GConflicting classifications of pathogenicity
Select item 904999	NM_000414.4(HSD17B4):c.112+11G>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GConflicting classifications of pathogenicity
Select item 559065	NM_000414.4(HSD17B4):c.112+15T>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2926520	NM_000414.4(HSD17B4):c.113-19G>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2926080	NM_000414.4(HSD17B4):c.113-18C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951871	NM_000414.4(HSD17B4):c.113-15G>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2930710	NM_000414.4(HSD17B4):c.113-12T>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 1572970	NM_000414.4(HSD17B4):c.113-9G>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 1120920	NM_000414.4(HSD17B4):c.113-7A>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 1667573	NM_000414.4(HSD17B4):c.117T>C (p.Asn39=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1521169	NM_000414.4(HSD17B4):c.118G>T (p.Asp40Tyr)	HSD17B4 (D40Y +3 more)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 1547286	NM_000414.4(HSD17B4):c.129G>A (p.Gly43=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 1392532	NM_000414.4(HSD17B4):c.131A>T (p.Asp44Val)	HSD17B4 (D26V +3 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +1 more	GUncertain significance
Select item 2944394	NM_000414.4(HSD17B4):c.132C>T (p.Asp44=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2934576	NM_000414.4(HSD17B4):c.141A>C (p.Gly47=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2109817	NM_000414.4(HSD17B4):c.147T>C (p.Gly49=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1364235	NM_000414.4(HSD17B4):c.160G>A (p.Ala54Thr)	HSD17B4 (A36T +3 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +2 more	GUncertain significance
Select item 1712848	NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)	HSD17B4 (A30V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1422657	NM_000414.4(HSD17B4):c.161C>G (p.Ala54Gly)	HSD17B4 (A79G +3 more)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 1448723	NM_000414.4(HSD17B4):c.163G>A (p.Ala55Thr)	HSD17B4 (A31T +3 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +1 more	GUncertain significance
Select item 1136426	NM_000414.4(HSD17B4):c.165T>C (p.Ala55=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 196269	NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile)	HSD17B4 (V59I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1114863	NM_000414.4(HSD17B4):c.177T>G (p.Val59=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 1095544	NM_000414.4(HSD17B4):c.186A>C (p.Ile62=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2948867	NM_000414.4(HSD17B4):c.187A>T (p.Arg63Ter)	HSD17B4 (R88* +3 more)	Single nucleotide variant (nonsense +2 more)	Perrault syndrome +1 more	GPathogenic
Select item 1034763	NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser)	HSD17B4 (R40S +3 more)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome +1 more	GUncertain significance
Select item 2006798	NM_000414.4(HSD17B4):c.193A>C (p.Arg65=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1655107	NM_000414.4(HSD17B4):c.195A>G (p.Arg65=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2112719	NM_000414.4(HSD17B4):c.198T>G (p.Gly66=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1609379	NM_000414.4(HSD17B4):c.198T>C (p.Gly66=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2067511	NM_000414.4(HSD17B4):c.200G>A (p.Gly67Glu)	HSD17B4 (G67E +3 more)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 1162027	NM_000414.4(HSD17B4):c.207A>G (p.Ala69=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2929052	NM_000414.4(HSD17B4):c.213C>T (p.Ala71=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2016279	NM_000414.4(HSD17B4):c.216C>T (p.Asn72=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 556948	NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys)	HSD17B4 (N72K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2058940	NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)	HSD17B4 (D50N +3 more)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1399002	NM_000414.4(HSD17B4):c.220+3A>G	HSD17B4	Single nucleotide variant (intron variant +1 more)	Perrault syndrome +1 more	GUncertain significance
Select item 2007881	NM_000414.4(HSD17B4):c.220+10T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2939834	NM_000414.4(HSD17B4):c.220+14G>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 1597063	NM_000414.4(HSD17B4):c.220+16G>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2031620	NM_000414.4(HSD17B4):c.221-18A>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2924891	NM_000414.4(HSD17B4):c.221-17A>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2933457	NM_000414.4(HSD17B4):c.221-12C>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 1582517	NM_000414.4(HSD17B4):c.221-10T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2951772	NM_000414.4(HSD17B4):c.221-9T>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 1552073	NM_000414.4(HSD17B4):c.221-5del	HSD17B4	Deletion (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2925134	NM_000414.4(HSD17B4):c.221-6C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1090394	NM_000414.4(HSD17B4):c.221-5C>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 1594576	NM_000414.4(HSD17B4):c.225A>C (p.Ser75=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 1643137	NM_000414.4(HSD17B4):c.228G>A (p.Val76=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 594737	NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly)	HSD17B4 (E77G +3 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +3 more	GUncertain significance

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