"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LSR"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2861251	NM_015925.6(LSR):c.69delC (p.Trp24Glyfs)	LSR	Deletion (frameshift variant)	not provided	GLikely benign
Select item 1911637	NM_205834.4(LSR):c.-15G>A	LSR	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 2068230	NM_205834.4(LSR):c.-11A>G	LSR	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2878536	NM_205834.4(LSR):c.8T>A (p.Leu3Gln)	LSR (L3Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126199	NM_205834.4(LSR):c.16G>C (p.Gly6Arg)	LSR (G6R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1909228	NM_205834.4(LSR):c.17_18delinsAA (p.Gly6Glu)	LSR (G6E)	Indel (missense variant)	not provided	GUncertain significance
Select item 2863333	NM_205834.4(LSR):c.19G>A (p.Gly7Arg)	LSR (G7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2407782	NM_205834.4(LSR):c.43C>T (p.His15Tyr)	LSR (H15Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2796679	NM_205834.4(LSR):c.66C>T (p.Asp22=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070372	NM_205834.4(LSR):c.68C>A (p.Ala23Glu)	LSR (A23E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746821	NM_205834.4(LSR):c.73G>T (p.Val25Phe)	LSR (V25F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2991588	NM_205834.4(LSR):c.85C>T (p.Leu29Phe)	LSR (L29F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854020	NM_205834.4(LSR):c.98C>A (p.Thr33Asn)	LSR (T33N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041379	NM_205834.4(LSR):c.109+4C>T	LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988842	NM_205834.4(LSR):c.109+12G>C	LSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708245	NM_205834.4(LSR):c.150C>T (p.Tyr50=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2416756	NM_205834.4(LSR):c.260G>C (p.Arg87Pro)	LSR (R87P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039683	NM_205834.4(LSR):c.267C>T (p.Ala89=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2699559	NM_205834.4(LSR):c.282G>A (p.Pro94=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911683	NM_205834.4(LSR):c.292G>A (p.Asp98Asn)	LSR (D98N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803131	NM_205834.4(LSR):c.310C>T (p.Gln104Ter)	LSR (Q104*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2992847	NM_205834.4(LSR):c.321C>T (p.Ala107=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126200	NM_205834.4(LSR):c.348T>C (p.Val116=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2905321	NM_205834.4(LSR):c.402C>T (p.Asn134=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2719906	NM_205834.4(LSR):c.455-8C>T	LSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965560	NM_205834.4(LSR):c.479C>T (p.Thr160Met)	LSR (T160M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886900	NM_205834.4(LSR):c.571C>T (p.Leu191Phe)	LSR (L191F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2161291	NM_205834.4(LSR):c.631+5G>A	LSR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2696798	NM_205834.4(LSR):c.631+9G>T	LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959416	NM_205834.4(LSR):c.631+20A>G	LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804958	NM_205834.4(LSR):c.646G>T (p.Val216Phe)	LSR (V197F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2747950	NM_205834.4(LSR):c.681C>T (p.Leu227=)	LSR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2049834	NM_205834.4(LSR):c.693C>T (p.Ile231=)	LSR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2712862	NM_205834.4(LSR):c.733G>A (p.Val245Ile)	LSR (V226I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414011	NM_205834.4(LSR):c.779-12G>A	LSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2969294	NM_205834.4(LSR):c.787G>A (p.Ala263Thr)	LSR (A244T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722555	NM_205834.4(LSR):c.840T>C (p.Tyr280=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975515	NM_205834.4(LSR):c.855C>T (p.Pro285=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152605	NM_205834.4(LSR):c.866C>T (p.Pro289Leu)	LSR (P221L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2898426	NM_205834.4(LSR):c.920_931dup (p.Gly310_Asp311insGlyTyrProGly)	LSR	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 2069281	NM_205834.4(LSR):c.925C>G (p.Pro309Ala)	LSR (P241A +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2917243	NM_205834.4(LSR):c.931G>A (p.Asp311Asn)	LSR (D203N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014948	NM_205834.4(LSR):c.944G>A (p.Ser315Asn)	LSR (S247N +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2348815	NM_205834.4(LSR):c.967T>G (p.Ser323Ala)	LSR (S304A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2978355	NM_205834.4(LSR):c.1012+18C>T	LSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1898518	NM_205834.4(LSR):c.1013-10del	LSR	Deletion (intron variant)	not provided	GBenign
Select item 2999294	NM_205834.4(LSR):c.1013-14C>G	LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931436	NM_205834.4(LSR):c.1013-11C>G	LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718442	NM_205834.4(LSR):c.1013-10_1013-9del	LSR	Deletion (intron variant)	not provided	GLikely benign
Select item 2072590	NM_205834.4(LSR):c.1018C>T (p.Arg340Cys)	LSR (R272C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161770	NM_205834.4(LSR):c.1052A>C (p.Asp351Ala)	LSR (D331A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860662	NM_205834.4(LSR):c.1053C>T (p.Asp351=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043841	NM_205834.4(LSR):c.1065G>T (p.Arg355=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2801685	NM_205834.4(LSR):c.1099T>G (p.Phe367Val)	LSR (F299V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713760	NM_205834.4(LSR):c.1115C>G (p.Pro372Arg)	LSR (P304R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981696	NM_205834.4(LSR):c.1124C>G (p.Pro375Arg)	LSR (P356R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126421	NM_205834.4(LSR):c.1156G>T (p.Val386Phe)	LSR (V317F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726530	NM_205834.4(LSR):c.1178A>G (p.Asp393Gly)	LSR (D324G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253761	NM_205834.4(LSR):c.1225G>A (p.Asp409Asn)	LSR (D409N +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2919237	NM_205834.4(LSR):c.1325G>T (p.Arg442Leu)	LSR (R423L +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1924362	NM_205834.4(LSR):c.1375G>A (p.Glu459Lys)	LSR (E390K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1995541	NM_205834.4(LSR):c.1410_1412dup (p.Arg471_Ser472insArg)	LSR	Duplication (inframe_insertion)	not provided	GBenign
Select item 2918675	NM_205834.4(LSR):c.1429C>A (p.Pro477Thr)	LSR (P369T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2719907	NM_205834.4(LSR):c.1501C>T (p.Pro501Ser)	LSR (P393S +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2740974	NM_205834.4(LSR):c.1560C>A (p.His520Gln)	LSR (H500Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051093	NM_205834.4(LSR):c.1573G>T (p.Asp525Tyr)	LSR (D457Y +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2716282	NM_205834.4(LSR):c.1653G>A (p.Gly551=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2718106	NM_205834.4(LSR):c.1688A>C (p.Glu563Ala)	LSR (E455A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807768	NM_205834.4(LSR):c.1737C>T (p.Asp579=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046590	NM_205834.4(LSR):c.1753G>A (p.Glu585Lys)	LSR (E517K +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2854250	NM_205834.4(LSR):c.1757G>A (p.Arg586His)	LSR (R518H +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2959149	NM_205834.4(LSR):c.1770+19G>A	LOC130064214, LSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039696	NM_205834.4(LSR):c.1789G>C (p.Glu597Gln)	LSR (E577Q +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1981861	NM_205834.4(LSR):c.1794T>C (p.Ser598=)	LSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76