"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CHRNG"[ - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 342

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534541	NC_000002.11:g.(?_233390906)_(233410446_?)dup	CHRND, CHRNG +2 more	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2782669	NM_005199.5(CHRNG):c.6T>C (p.His2=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733568	NM_005199.5(CHRNG):c.9G>C (p.Gly3=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697813	NM_005199.5(CHRNG):c.12C>A (p.Gly4=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981209	NM_005199.5(CHRNG):c.21G>A (p.Pro7=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962757	NM_005199.5(CHRNG):c.24G>A (p.Leu8=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719687	NM_005199.5(CHRNG):c.30C>T (p.Leu10=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725677	NM_005199.5(CHRNG):c.33G>A (p.Leu11=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727706	NM_005199.5(CHRNG):c.55+7C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008476	NM_005199.5(CHRNG):c.55+12A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743057	NM_005199.5(CHRNG):c.55+13G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724604	NM_005199.5(CHRNG):c.56-20C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016305	NM_005199.5(CHRNG):c.56-16C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2852013	NM_005199.5(CHRNG):c.56-15G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808368	NM_005199.5(CHRNG):c.56-13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750490	NM_005199.5(CHRNG):c.56-9C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1322085	NM_005199.5(CHRNG):c.56-1G>A	CHRNG	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 334998	NM_005199.5(CHRNG):c.57G>C (p.Gly19=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2748347	NM_005199.5(CHRNG):c.67C>A (p.Arg23=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769891	NM_005199.5(CHRNG):c.69G>A (p.Arg23=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706744	NM_005199.5(CHRNG):c.72C>T (p.Asn24=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870874	NM_005199.5(CHRNG):c.81G>A (p.Glu27=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 896266	NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys)	CHRNG (R28C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2729310	NM_005199.5(CHRNG):c.90C>T (p.Leu30=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850195	NM_005199.5(CHRNG):c.103C>T (p.Gln35Ter)	CHRNG (Q35*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2755165	NM_005199.5(CHRNG):c.111C>T (p.Tyr37=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 195239	NM_005199.5(CHRNG):c.117dup (p.Asn40fs)	CHRNG (N40fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 3019633	NM_005199.5(CHRNG):c.120C>T (p.Asn40=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997679	NM_005199.5(CHRNG):c.124C>A (p.Arg42=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376837	NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)	CHRNG (R42Q)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +3 more	GConflicting classifications of pathogenicity
Select item 334999	NM_005199.5(CHRNG):c.129C>T (p.Pro43=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 423846	NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)	CHRNG (A44T)	Single nucleotide variant (missense variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3000755	NM_005199.5(CHRNG):c.132G>C (p.Ala44=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 897876	NM_005199.5(CHRNG):c.132G>A (p.Ala44=)	CHRNG	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3023953	NM_005199.5(CHRNG):c.137_141del (p.Arg46fs)	CHRNG (R46fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 18341	NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)	CHRNG (R46*)	Single nucleotide variant (nonsense)	Lethal multiple pterygium syndrome +2 more	GPathogenic
Select item 259665	NM_005199.5(CHRNG):c.144G>A (p.Ser48=)	CHRNG	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2822318	NM_005199.5(CHRNG):c.147T>C (p.Asp49=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735681	NM_005199.5(CHRNG):c.150G>A (p.Val50=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888484	NM_005199.5(CHRNG):c.174C>T (p.Thr58=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988351	NM_005199.5(CHRNG):c.177C>A (p.Leu59=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873694	NM_005199.5(CHRNG):c.180C>T (p.Thr60=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849232	NM_005199.5(CHRNG):c.195+7C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784774	NM_005199.5(CHRNG):c.195+8G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800681	NM_005199.5(CHRNG):c.195+12G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 897878	NM_005199.5(CHRNG):c.195+14C>T	CHRNG	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3006583	NM_005199.5(CHRNG):c.195+15G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755761	NM_005199.5(CHRNG):c.195+17A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327696	NM_005199.5(CHRNG):c.195+19G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2727991	NM_005199.5(CHRNG):c.196-20C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862382	NM_005199.5(CHRNG):c.196-17C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863438	NM_005199.5(CHRNG):c.196-13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712504	NM_005199.5(CHRNG):c.196-9C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 335000	NM_005199.5(CHRNG):c.196-9C>T	CHRNG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2987014	NM_005199.5(CHRNG):c.196-7C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702516	NM_005199.5(CHRNG):c.198C>T (p.Asn66=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016950	NM_005199.5(CHRNG):c.201G>A (p.Glu67=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 548021	NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	CHRNG (R68*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 2816197	NM_005199.5(CHRNG):c.207G>A (p.Glu69=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787718	NM_005199.5(CHRNG):c.225T>C (p.Asn75=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748044	NM_005199.5(CHRNG):c.240+2T>C	CHRNG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2997436	NM_005199.5(CHRNG):c.240+9C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708974	NM_005199.5(CHRNG):c.240+11A>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746482	NM_005199.5(CHRNG):c.240+14del	CHRNG	Deletion (intron variant)	not provided	GLikely benign
Select item 2729673	NM_005199.5(CHRNG):c.240+13C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728060	NM_005199.5(CHRNG):c.240+13C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859760	NM_005199.5(CHRNG):c.240+14C>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850092	NM_005199.5(CHRNG):c.240+17C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796065	NM_005199.5(CHRNG):c.240+17C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005922	NM_005199.5(CHRNG):c.240+19A>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829705	NM_005199.5(CHRNG):c.241-20A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796723	NM_005199.5(CHRNG):c.241-13C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867613	NM_005199.5(CHRNG):c.241-11T>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908290	NM_005199.5(CHRNG):c.241-6C>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712255	NM_005199.5(CHRNG):c.241-5del	CHRNG	Deletion (intron variant)	not provided	GLikely benign
Select item 259666	NM_005199.5(CHRNG):c.241-5T>C	CHRNG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3019466	NM_005199.5(CHRNG):c.249C>T (p.Cys83=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795511	NM_005199.5(CHRNG):c.258C>T (p.Arg86=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774141	NM_005199.5(CHRNG):c.261G>C (p.Leu87=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960097	NM_005199.5(CHRNG):c.273G>A (p.Pro91=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618567	NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)	CHRNG (R92*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2873650	NM_005199.5(CHRNG):c.279C>T (p.Asp93=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 705191	NM_005199.5(CHRNG):c.282C>T (p.Tyr94=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804575	NM_005199.5(CHRNG):c.285A>G (p.Glu95=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804084	NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)	CHRNG	Duplication (inframe_insertion)	Autosomal recessive multiple pterygium syndrome +1 more	GLikely pathogenic
Select item 2847673	NM_005199.5(CHRNG):c.297G>A (p.Val99=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819754	NM_005199.5(CHRNG):c.309G>T (p.Pro103=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769175	NM_005199.5(CHRNG):c.309G>C (p.Pro103=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712512	NM_005199.5(CHRNG):c.309G>A (p.Pro103=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997931	NM_005199.5(CHRNG):c.312C>A (p.Ser104=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 497740	NM_005199.5(CHRNG):c.330G>A (p.Pro110=)	CHRNG	Single nucleotide variant (synonymous variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2728771	NM_005199.5(CHRNG):c.336C>T (p.Ile112=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976182	NM_005199.5(CHRNG):c.348C>T (p.Asn116=)	CHRNG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718571	NM_005199.5(CHRNG):c.350+11G>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852644	NM_005199.5(CHRNG):c.350+12G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743736	NM_005199.5(CHRNG):c.350+12G>C	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869143	NM_005199.5(CHRNG):c.350+18G>A	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800002	NM_005199.5(CHRNG):c.350+20A>G	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804725	NM_005199.5(CHRNG):c.351-15G>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007428	NM_005199.5(CHRNG):c.351-12C>T	CHRNG	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4