Related gene-specific medical variations for Gene (Select 56160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019057	NM_138704.4(NSMCE3):c.300C>T (p.Asp100=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013830	NM_138704.4(NSMCE3):c.36C>G (p.Gly12=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010778	NM_138704.4(NSMCE3):c.207C>T (p.Arg69=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006495	NM_138704.4(NSMCE3):c.189C>T (p.Pro63=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 3002920	NM_138704.4(NSMCE3):c.49A>C (p.Arg17=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999915	NM_138704.4(NSMCE3):c.75A>C (p.Gly25=)	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 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 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 2986703	NM_138704.4(NSMCE3):c.183G>A (p.Gln61=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2979090	NM_138704.4(NSMCE3):c.132C>G (p.Ala44=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975341	NM_138704.4(NSMCE3):c.186C>T (p.Gly62=)	ENTREP2, NSMCE3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 2963923	NM_138704.4(NSMCE3):c.270C>G (p.Ser90=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961031	NM_138704.4(NSMCE3):c.243C>T (p.Ser81=)	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 2915862	NM_138704.4(NSMCE3):c.126C>A (p.Gly42=)	NSMCE3, ENTREP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2901827	NM_138704.4(NSMCE3):c.180G>A (p.Ser60=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899602	NM_138704.4(NSMCE3):c.18G>A (p.Arg6=)	ENTREP2, NSMCE3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 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 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 2881313	NM_138704.4(NSMCE3):c.78C>T (p.Asn26=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879039	NM_138704.4(NSMCE3):c.81C>T (p.Pro27=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878020	NM_138704.4(NSMCE3):c.108C>T (p.Ala36=)	NSMCE3, ENTREP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2851320	NM_138704.4(NSMCE3):c.105C>T (p.Asp35=)	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 2794928	NM_138704.4(NSMCE3):c.171G>T (p.Ser57=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784192	NM_138704.4(NSMCE3):c.246G>A (p.Gln82=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2779410	NM_138704.4(NSMCE3):c.39C>T (p.Gly13=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2756412	NM_138704.4(NSMCE3):c.308A>G (p.Lys103Arg)	ENTREP2, NSMCE3 (K103R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2645096	NM_138704.4(NSMCE3):c.623A>G (p.Tyr208Cys)	ENTREP2, NSMCE3 (Y208C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2427266	NC_000015.9:g.(?_29560995)_(29561909_?)dup	ENTREP2, NSMCE3	Duplication	not provided	GUncertain significance
Select item 2427265	NC_000015.9:g.(?_29560995)_(29561909_?)del	ENTREP2, NSMCE3	Deletion	not provided	GUncertain significance
Select item 2421299	NM_138704.4(NSMCE3):c.107C>T (p.Ala36Val)	NSMCE3, ENTREP2 (A36V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2342926	NM_138704.4(NSMCE3):c.42G>C (p.Gln14His)	ENTREP2, NSMCE3 (Q14H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2193235	NM_138704.4(NSMCE3):c.124G>T (p.Gly42Cys)	ENTREP2, NSMCE3 (G42C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191248	NM_138704.4(NSMCE3):c.96C>T (p.Ala32=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187295	NM_138704.4(NSMCE3):c.45C>G (p.Ala15=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2158647	NM_138704.4(NSMCE3):c.177G>A (p.Gly59=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2126675	NM_138704.4(NSMCE3):c.143dup (p.Ser49fs)	ENTREP2, NSMCE3 (S49fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2112945	NM_138704.4(NSMCE3):c.219C>A (p.Ala73=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2102625	NM_138704.4(NSMCE3):c.143C>G (p.Pro48Arg)	ENTREP2, NSMCE3 (P48R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 2061850	NM_138704.4(NSMCE3):c.266T>C (p.Val89Ala)	ENTREP2, NSMCE3 (V89A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2045081	NM_138704.4(NSMCE3):c.41A>C (p.Gln14Pro)	ENTREP2, NSMCE3 (Q14P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 2014765	NM_138704.4(NSMCE3):c.26G>C (p.Gly9Ala)	ENTREP2, NSMCE3 (G9A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 1984295	NM_138704.4(NSMCE3):c.177_185dup (p.Gly62_Pro63insSerGlnGly)	ENTREP2, NSMCE3	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
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 1981308	NM_138704.4(NSMCE3):c.162G>A (p.Pro54=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981154	NM_138704.4(NSMCE3):c.72C>T (p.Ser24=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 1970171	NM_138704.4(NSMCE3):c.32C>G (p.Ser11Cys)	ENTREP2, NSMCE3 (S11C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965597	NM_138704.4(NSMCE3):c.107C>G (p.Ala36Gly)	ENTREP2, NSMCE3 (A36G)	Single nucleotide variant (missense 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 1962918	NM_138704.4(NSMCE3):c.852_858delinsATTAAGAT (p.Ala285fs)	ENTREP2, NSMCE3 (A285fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
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 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 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 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 1941398	NM_138704.4(NSMCE3):c.119G>C (p.Arg40Thr)	ENTREP2, NSMCE3 (R40T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1923183	NM_138704.4(NSMCE3):c.226G>A (p.Ala76Thr)	ENTREP2, NSMCE3 (A76T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915942	NM_138704.4(NSMCE3):c.8A>C (p.Gln3Pro)	ENTREP2, NSMCE3 (Q3P)	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 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 1666260	NM_138704.4(NSMCE3):c.117C>G (p.Leu39=)	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 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 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 1643535	NM_138704.4(NSMCE3):c.249G>A (p.Lys83=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1616283	NM_138704.4(NSMCE3):c.621C>G (p.Val207=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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