"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NSMCE3" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1462904	NM_138704.4(NSMCE3):c.902C>T (p.Ala301Val)	ENTREP2, NSMCE3 (A301V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1376218	NM_138704.4(NSMCE3):c.898C>T (p.Pro300Ser)	ENTREP2, NSMCE3 (P300S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138579	NM_138704.4(NSMCE3):c.889C>T (p.Pro297Ser)	ENTREP2, NSMCE3 (P297S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893039	NM_138704.4(NSMCE3):c.888G>A (p.Gln296=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2041856	NM_138704.4(NSMCE3):c.881G>A (p.Arg294Lys)	ENTREP2, NSMCE3 (R294K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1004005	NM_138704.4(NSMCE3):c.877G>A (p.Ala293Thr)	ENTREP2, NSMCE3 (A293T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993197	NM_138704.4(NSMCE3):c.876G>A (p.Arg292=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1019113	NM_138704.4(NSMCE3):c.865GAG[1] (p.Glu290del)	ENTREP2, NSMCE3 (E290del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1138252	NM_138704.4(NSMCE3):c.861A>G (p.Ala287=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962918	NM_138704.4(NSMCE3):c.852_858delinsATTAAGAT (p.Ala285fs)	ENTREP2, NSMCE3 (A285fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1962919	NM_138704.4(NSMCE3):c.852G>A (p.Glu284=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2007850	NM_138704.4(NSMCE3):c.850G>C (p.Glu284Gln)	ENTREP2, NSMCE3 (E284Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1644102	NM_138704.4(NSMCE3):c.846C>T (p.Tyr282=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1998400	NM_138704.4(NSMCE3):c.845A>G (p.Tyr282Cys)	ENTREP2, NSMCE3 (Y282C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1635042	NM_138704.4(NSMCE3):c.840G>C (p.Ala280=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948438	NM_138704.4(NSMCE3):c.839C>T (p.Ala280Val)	ENTREP2, NSMCE3 (A280V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077518	NM_138704.4(NSMCE3):c.838G>T (p.Ala280Ser)	ENTREP2, NSMCE3 (A280S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985204	NM_138704.4(NSMCE3):c.837A>G (p.Pro279=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421457	NM_138704.4(NSMCE3):c.826A>G (p.Lys276Glu)	ENTREP2, NSMCE3 (K276E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2016181	NM_138704.4(NSMCE3):c.814A>G (p.Asn272Asp)	ENTREP2, NSMCE3 (N272D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2781899	NM_138704.4(NSMCE3):c.810C>G (p.Val270=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 267795	NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe)	ENTREP2, NSMCE3 (L264F)	Single nucleotide variant (missense variant +1 more)	Lung disease, immunodeficiency, and chromosome breakage syndrome; +2 more	GPathogenic/Likely pathogenic
Select item 2969810	NM_138704.4(NSMCE3):c.780G>A (p.Lys260=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 710048	NM_138704.4(NSMCE3):c.764A>T (p.Asn255Ile)	ENTREP2, NSMCE3 (N255I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1384651	NM_138704.4(NSMCE3):c.760A>T (p.Thr254Ser)	ENTREP2, NSMCE3 (T254S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1543586	NM_138704.4(NSMCE3):c.759A>G (p.Arg253=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1951578	NM_138704.4(NSMCE3):c.741A>G (p.Glu247=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1529310	NM_138704.4(NSMCE3):c.738C>T (p.Tyr246=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1346854	NM_138704.4(NSMCE3):c.737A>G (p.Tyr246Cys)	ENTREP2, NSMCE3 (Y246C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1354654	NM_138704.4(NSMCE3):c.730G>A (p.Val244Ile)	ENTREP2, NSMCE3 (V244I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 762961	NM_138704.4(NSMCE3):c.729C>T (p.Pro243=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071797	NM_138704.4(NSMCE3):c.723C>G (p.Thr241=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900996	NM_138704.4(NSMCE3):c.716C>T (p.Pro239Leu)	ENTREP2, NSMCE3 (P239L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908431	NM_138704.4(NSMCE3):c.699G>A (p.Leu233=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1660138	NM_138704.4(NSMCE3):c.696C>T (p.Tyr232=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781545	NM_138704.4(NSMCE3):c.681T>C (p.Phe227=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1410985	NM_138704.4(NSMCE3):c.658A>G (p.Lys220Glu)	ENTREP2, NSMCE3 (K220E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908490	NM_138704.4(NSMCE3):c.653A>G (p.Asp218Gly)	ENTREP2, NSMCE3 (D218G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066716	NM_138704.4(NSMCE3):c.648C>T (p.Phe216=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993625	NM_138704.4(NSMCE3):c.639T>C (p.His213=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1377198	NM_138704.4(NSMCE3):c.635A>G (p.Lys212Arg)	NSMCE3, ENTREP2 (K212R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1616283	NM_138704.4(NSMCE3):c.621C>G (p.Val207=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1170541	NM_138704.4(NSMCE3):c.619G>A (p.Val207Ile)	ENTREP2, NSMCE3 (V207I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2875014	NM_138704.4(NSMCE3):c.612C>T (p.Arg204=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1534077	NM_138704.4(NSMCE3):c.612C>A (p.Arg204=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991274	NM_138704.4(NSMCE3):c.606G>A (p.Leu202=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2918034	NM_138704.4(NSMCE3):c.604C>T (p.Leu202=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831769	NM_138704.4(NSMCE3):c.604C>A (p.Leu202Met)	ENTREP2, NSMCE3 (L202M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172715	NM_138704.4(NSMCE3):c.599A>G (p.Asp200Gly)	ENTREP2, NSMCE3 (D200G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1034263	NM_138704.4(NSMCE3):c.586A>G (p.Thr196Ala)	ENTREP2, NSMCE3 (T196A)	Single nucleotide variant (missense variant +1 more)	Lung disease, immunodeficiency, and chromosome breakage syndrome; +1 more	GUncertain significance
Select item 1383097	NM_138704.4(NSMCE3):c.585A>T (p.Glu195Asp)	ENTREP2, NSMCE3 (E195D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1364083	NM_138704.4(NSMCE3):c.577A>G (p.Ile193Val)	ENTREP2, NSMCE3 (I193V)	Single nucleotide variant (missense variant +1 more)	Lung disease, immunodeficiency, and chromosome breakage syndrome; +1 more	GUncertain significance
Select item 2047602	NM_138704.4(NSMCE3):c.575C>A (p.Thr192Asn)	ENTREP2, NSMCE3 (T192N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 735179	NM_138704.4(NSMCE3):c.572A>G (p.Asn191Ser)	ENTREP2, NSMCE3 (N191S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3004660	NM_138704.4(NSMCE3):c.570C>G (p.Gly190=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1540320	NM_138704.4(NSMCE3):c.546C>T (p.Val182=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1608951	NM_138704.4(NSMCE3):c.543C>T (p.Ile181=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791403	NM_138704.4(NSMCE3):c.524C>T (p.Thr175Ile)	ENTREP2, NSMCE3 (T175I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2054404	NM_138704.4(NSMCE3):c.521C>A (p.Pro174His)	ENTREP2, NSMCE3 (P174H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997170	NM_138704.4(NSMCE3):c.515G>A (p.Gly172Asp)	ENTREP2, NSMCE3 (G172D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2881577	NM_138704.4(NSMCE3):c.504G>A (p.Arg168=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1468876	NM_138704.4(NSMCE3):c.502del (p.Arg168fs)	ENTREP2, NSMCE3 (R168fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1382163	NM_138704.4(NSMCE3):c.500T>A (p.Met167Lys)	ENTREP2, NSMCE3 (M167K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005440	NM_138704.4(NSMCE3):c.495C>A (p.Ala165=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 775353	NM_138704.4(NSMCE3):c.495C>G (p.Ala165=)	NSMCE3, ENTREP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1970339	NM_138704.4(NSMCE3):c.494C>T (p.Ala165Val)	ENTREP2, NSMCE3 (A165V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1497745	NM_138704.4(NSMCE3):c.490G>A (p.Asp164Asn)	ENTREP2, NSMCE3 (D164N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1631517	NM_138704.4(NSMCE3):c.474G>T (p.Leu158=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927379	NM_138704.4(NSMCE3):c.472C>T (p.Leu158=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1540510	NM_138704.4(NSMCE3):c.471C>T (p.Thr157=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559934	NM_138704.4(NSMCE3):c.468C>T (p.Asn156=)	ENTREP2, NSMCE3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2882109	NM_138704.4(NSMCE3):c.459C>T (p.Ile153=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1590186	NM_138704.4(NSMCE3):c.456C>T (p.Tyr152=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1448215	NM_138704.4(NSMCE3):c.455dup (p.Tyr152Ter)	ENTREP2, NSMCE3 (Y152*)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 2130592	NM_138704.4(NSMCE3):c.436G>C (p.Glu146Gln)	ENTREP2, NSMCE3 (E146Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006022	NM_138704.4(NSMCE3):c.432A>G (p.Glu144=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1537447	NM_138704.4(NSMCE3):c.417G>C (p.Gly139=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1522743	NM_138704.4(NSMCE3):c.414C>A (p.Phe138Leu)	ENTREP2, NSMCE3 (F138L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2778824	NM_138704.4(NSMCE3):c.408C>T (p.Tyr136=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1539975	NM_138704.4(NSMCE3):c.399C>T (p.Arg133=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1363422	NM_138704.4(NSMCE3):c.397C>G (p.Arg133Gly)	ENTREP2, NSMCE3 (R133G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1046565	NM_138704.4(NSMCE3):c.397C>A (p.Arg133Ser)	ENTREP2, NSMCE3 (R133S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985104	NM_138704.4(NSMCE3):c.390C>A (p.Ala130=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1949372	NM_138704.4(NSMCE3):c.383A>G (p.Lys128Arg)	ENTREP2, NSMCE3 (K128R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1366012	NM_138704.4(NSMCE3):c.381C>A (p.Phe127Leu)	ENTREP2, NSMCE3 (F127L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396720	NM_138704.4(NSMCE3):c.373G>A (p.Asp125Asn)	ENTREP2, NSMCE3 (D125N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1368673	NM_138704.4(NSMCE3):c.371C>G (p.Pro124Arg)	ENTREP2, NSMCE3 (P124R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490402	NM_138704.4(NSMCE3):c.370C>T (p.Pro124Ser)	ENTREP2, NSMCE3 (P124S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1653831	NM_138704.4(NSMCE3):c.369C>T (p.Phe123=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873775	NM_138704.4(NSMCE3):c.363C>T (p.Asp121=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1531163	NM_138704.4(NSMCE3):c.360G>A (p.Lys120=)	NSMCE3, ENTREP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1111330	NM_138704.4(NSMCE3):c.359A>G (p.Lys120Arg)	ENTREP2, NSMCE3 (K120R)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2983060	NM_138704.4(NSMCE3):c.348C>T (p.Ile116=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1136603	NM_138704.4(NSMCE3):c.339G>A (p.Lys113=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1957988	NM_138704.4(NSMCE3):c.336G>C (p.Leu112=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1544232	NM_138704.4(NSMCE3):c.333A>T (p.Ile111=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1984180	NM_138704.4(NSMCE3):c.331A>G (p.Ile111Val)	ENTREP2, NSMCE3 (I111V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874998	NM_138704.4(NSMCE3):c.315G>A (p.Pro105=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2096061	NM_138704.4(NSMCE3):c.309G>A (p.Lys103=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2756412	NM_138704.4(NSMCE3):c.308A>G (p.Lys103Arg)	ENTREP2, NSMCE3 (K103R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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