"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ITSN2"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2721055	NM_006277.3(ITSN2):c.3696C>T (p.Val1232=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179170	NM_006277.3(ITSN2):c.3673A>G (p.Met1225Val)	ITSN2 (M1185V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067829	NM_006277.3(ITSN2):c.3672C>T (p.Tyr1224=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200842	NM_006277.3(ITSN2):c.3668G>A (p.Arg1223Gln)	ITSN2 (R1183Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2040708	NM_006277.3(ITSN2):c.3616A>G (p.Ile1206Val)	ITSN2 (I1192V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3013918	NM_006277.3(ITSN2):c.3615A>T (p.Pro1205=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958790	NM_006277.3(ITSN2):c.3603C>T (p.Asp1201=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183465	NM_006277.3(ITSN2):c.3514G>C (p.Val1172Leu)	ITSN2 (V1159L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420675	NM_006277.3(ITSN2):c.3511G>A (p.Gly1171Arg)	ITSN2 (G1130R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712617	NM_006277.3(ITSN2):c.3510C>T (p.Asn1170=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722436	NM_006277.3(ITSN2):c.3505A>G (p.Ile1169Val)	ITSN2 (I1128V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719141	NM_006277.3(ITSN2):c.3440G>C (p.Ser1147Thr)	ITSN2 (S1133T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780507	NM_006277.3(ITSN2):c.3332A>G (p.His1111Arg)	ITSN2 (H1070R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980452	NM_006277.3(ITSN2):c.3305G>A (p.Arg1102Gln)	ITSN2 (R1075Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769088	NM_006277.3(ITSN2):c.3213A>G (p.Gln1071=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892400	NM_006277.3(ITSN2):c.3189A>G (p.Ala1063=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421805	NM_006277.3(ITSN2):c.3129G>A (p.Gly1043=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776955	NM_006277.3(ITSN2):c.3121-17G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857972	NM_006277.3(ITSN2):c.3121-18G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276968	NM_006277.3(ITSN2):c.3120+9A>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2397036	NM_006277.3(ITSN2):c.3065T>C (p.Ile1022Thr)	ITSN2 (I1008T +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2745104	NM_006277.3(ITSN2):c.2953+5G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2634406	NM_006277.3(ITSN2):c.2939A>G (p.Tyr980Cys)	ITSN2 (Y939C +5 more)	Single nucleotide variant (missense variant)	ITSN2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2883630	NM_006277.3(ITSN2):c.2930C>T (p.Ser977Leu)	ITSN2 (S950L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785956	NM_006277.3(ITSN2):c.2889-13AT[5]	ITSN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2855201	NM_006277.3(ITSN2):c.2889-37GTTT[7]	ITSN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1974226	NM_006277.3(ITSN2):c.2889-37GTTT[4]	ITSN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1971228	NM_006277.3(ITSN2):c.2889-37GTTT[5]	ITSN2	Microsatellite (intron variant)	not provided	GBenign
Select item 2053308	NM_006277.3(ITSN2):c.2882G>A (p.Arg961Gln)	ITSN2 (R921Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2706955	NM_006277.3(ITSN2):c.2856G>C (p.Lys952Asn)	ITSN2 (K939N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723127	NM_006277.3(ITSN2):c.2684G>A (p.Gly895Glu)	ITSN2 (G882E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039704	NM_006277.3(ITSN2):c.2678G>C (p.Gly893Ala)	ITSN2 (G853A +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2138348	NM_006277.3(ITSN2):c.2660C>A (p.Ser887Tyr)	ITSN2 (S846Y +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2897579	NM_006277.3(ITSN2):c.2651C>T (p.Ser884Phe)	ITSN2 (S871F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189572	NM_006277.3(ITSN2):c.2550A>G (p.Ser850=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042853	NM_006277.3(ITSN2):c.2543T>C (p.Leu848Pro)	ITSN2 (L808P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814487	NM_006277.3(ITSN2):c.2536_2537+2del	ITSN2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2727717	NM_006277.3(ITSN2):c.2514A>G (p.Leu838=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011105	NM_006277.3(ITSN2):c.2451A>G (p.Pro817=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039389	NM_006277.3(ITSN2):c.2436T>C (p.Tyr812=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2712193	NM_006277.3(ITSN2):c.2356-4G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068751	NM_006277.3(ITSN2):c.2356-5C>T	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780583	NM_006277.3(ITSN2):c.2326A>G (p.Met776Val)	ITSN2 (M776V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819053	NM_006277.3(ITSN2):c.2298C>A (p.Tyr766Ter)	ITSN2 (Y725* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1970971	NM_006277.3(ITSN2):c.2258-19A>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2043737	NM_006277.3(ITSN2):c.2257+1G>A	ITSN2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2635591	NM_006277.3(ITSN2):c.2199_2219dup (p.Lys741_Asp742insAlaGluGluLysGlnArgLys)	ITSN2	Duplication (inframe_insertion +1 more)	ITSN2-related disorder +1 more	GUncertain significance
Select item 1979700	NM_006277.3(ITSN2):c.2153G>A (p.Arg718Gln)	ITSN2 (R691Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3018713	NM_006277.3(ITSN2):c.2139A>G (p.Glu713=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715557	NM_006277.3(ITSN2):c.2082-5T>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2811509	NM_006277.3(ITSN2):c.2071G>A (p.Glu691Lys)	ITSN2 (E664K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895929	NM_006277.3(ITSN2):c.2049G>A (p.Met683Ile)	ITSN2 (M642I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040709	NM_006277.3(ITSN2):c.1989G>A (p.Gln663=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2872945	NM_006277.3(ITSN2):c.1978G>A (p.Ala660Thr)	ITSN2 (A633T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720963	NM_006277.3(ITSN2):c.1968A>G (p.Thr656=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038404	NM_006277.3(ITSN2):c.1870A>G (p.Asn624Asp)	ITSN2 (N610D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1972913	NM_006277.3(ITSN2):c.1864-18A>C	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998939	NM_006277.3(ITSN2):c.1864-21_1864-19del	ITSN2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2124598	NM_006277.3(ITSN2):c.1752A>G (p.Lys584=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849064	NM_006277.3(ITSN2):c.1718C>A (p.Thr573Lys)	ITSN2 (T559K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040805	NM_006277.3(ITSN2):c.1701C>T (p.Asn567=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2076449	NM_006277.3(ITSN2):c.1658A>G (p.Tyr553Cys)	ITSN2 (Y553C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873634	NM_006277.3(ITSN2):c.1636-18A>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875201	NM_006277.3(ITSN2):c.1578G>A (p.Leu526=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754635	NM_006277.3(ITSN2):c.1525C>T (p.Leu509Phe)	ITSN2 (L495F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135733	NM_006277.3(ITSN2):c.1494+7del	ITSN2	Deletion (intron variant)	not provided	GLikely benign
Select item 739313	NM_006277.3(ITSN2):c.1467G>A (p.Lys489=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2049865	NM_006277.3(ITSN2):c.1427G>A (p.Arg476Lys)	ITSN2 (R462K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2040588	NM_006277.3(ITSN2):c.1376G>A (p.Arg459His)	ITSN2 (R445H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2512103	NM_006277.3(ITSN2):c.1373G>A (p.Arg458His)	ITSN2 (R444H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2037559	NM_006277.3(ITSN2):c.1345-4dup	ITSN2	Duplication (intron variant)	not provided	GBenign
Select item 2020451	NM_006277.3(ITSN2):c.1340G>A (p.Arg447Gln)	ITSN2 (R433Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2792889	NM_006277.3(ITSN2):c.1327G>A (p.Asp443Asn)	ITSN2 (D429N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047478	NM_006277.3(ITSN2):c.1322G>A (p.Arg441Lys)	ITSN2 (R427K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2012999	NM_006277.3(ITSN2):c.1304A>G (p.Gln435Arg)	ITSN2 (Q421R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016589	NM_006277.3(ITSN2):c.1183C>T (p.Arg395Cys)	ITSN2 (R381C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004598	NM_006277.3(ITSN2):c.1081+3A>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2045583	NM_006277.3(ITSN2):c.1018A>G (p.Ile340Val)	ITSN2 (I326V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1973064	NM_006277.3(ITSN2):c.995+20G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769551	NM_006277.3(ITSN2):c.992T>A (p.Phe331Tyr)	ITSN2 (F331Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018754	NM_006277.3(ITSN2):c.930C>G (p.Asp310Glu)	ITSN2 (D296E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265149	NM_006277.3(ITSN2):c.871G>A (p.Val291Ile)	ITSN2 (V277I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1971728	NM_006277.3(ITSN2):c.857+13C>T	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1978640	NM_006277.3(ITSN2):c.794-19A>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2053977	NM_006277.3(ITSN2):c.760A>G (p.Thr254Ala)	ITSN2 (T254A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2003030	NM_006277.3(ITSN2):c.746G>A (p.Arg249Gln)	ITSN2 (R249Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2039091	NM_006277.3(ITSN2):c.681A>G (p.Ser227=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2069318	NM_006277.3(ITSN2):c.624G>A (p.Ala208=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185207	NM_006277.3(ITSN2):c.562C>T (p.Pro188Ser)	ITSN2 (P188S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971710	NM_006277.3(ITSN2):c.556+20A>T	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2071081	NM_006277.3(ITSN2):c.554C>T (p.Ser185Leu)	ITSN2 (S185L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911157	NM_006277.3(ITSN2):c.513C>T (p.Thr171=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074359	NM_006277.3(ITSN2):c.475G>A (p.Val159Met)	ITSN2 (V159M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2634580	NM_006277.3(ITSN2):c.443A>G (p.Asn148Ser)	ITSN2 (N134S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2055499	NM_006277.3(ITSN2):c.402T>C (p.Ala134=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971711	NM_006277.3(ITSN2):c.353-20A>G	ITSN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2079210	NM_006277.3(ITSN2):c.352+9G>A	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056086	NM_006277.3(ITSN2):c.312G>A (p.Lys104=)	ITSN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2868770	NM_006277.3(ITSN2):c.52A>G (p.Ile18Val)	ITSN2 (I4V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054105	NM_006277.3(ITSN2):c.32-8T>C	ITSN2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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