Related gene-specific medical variations for Gene (Select 130916) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321183	NM_001080437.3(SNED1):c.3137A>G (p.Glu1046Gly)	MTERF4, SNED1 (E1046G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321182	NM_001080437.3(SNED1):c.1739G>A (p.Arg580Gln)	MTERF4, SNED1 +1 more (R580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321179	NM_001080437.3(SNED1):c.1340C>A (p.Ala447Glu)	MTERF4, SNED1 +1 more (A447E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321178	NM_001080437.3(SNED1):c.3142C>T (p.Leu1048Phe)	MTERF4, SNED1 (L1048F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321176	NM_001080437.3(SNED1):c.2648T>A (p.Leu883Gln)	MTERF4, SNED1 (L883Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321175	NM_001080437.3(SNED1):c.2799C>T (p.Ala933=)	MTERF4, SNED1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3321174	NM_001080437.3(SNED1):c.3781G>A (p.Gly1261Ser)	MTERF4, SNED1 (G1261S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321173	NM_001080437.3(SNED1):c.3506G>C (p.Arg1169Pro)	MTERF4, SNED1 (R1169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321172	NM_001080437.3(SNED1):c.3334G>A (p.Ala1112Thr)	MTERF4, SNED1 (A1112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321171	NM_001080437.3(SNED1):c.3445C>T (p.Arg1149Cys)	MTERF4, SNED1 (R1149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321170	NM_001080437.3(SNED1):c.3863A>G (p.Lys1288Arg)	MTERF4, SNED1 (K1288R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3321168	NM_001080437.3(SNED1):c.1955G>A (p.Arg652Gln)	SNED1, SNED1-AS1 +1 more (R652Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166983	NM_001080437.3(SNED1):c.3788C>T (p.Ser1263Leu)	MTERF4, SNED1 (S1263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166982	NM_001080437.3(SNED1):c.3671G>A (p.Arg1224His)	MTERF4, SNED1 (R1224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166981	NM_001080437.3(SNED1):c.3580A>G (p.Ile1194Val)	MTERF4, SNED1 (I1194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166978	NM_001080437.3(SNED1):c.3160G>A (p.Asp1054Asn)	MTERF4, SNED1 (D1054N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166977	NM_001080437.3(SNED1):c.3128G>A (p.Arg1043His)	MTERF4, SNED1 (R1043H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166976	NM_001080437.3(SNED1):c.2800G>A (p.Ala934Thr)	MTERF4, SNED1 (A934T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166975	NM_001080437.3(SNED1):c.2528G>A (p.Arg843Gln)	MTERF4, SNED1 +1 more (R843Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166974	NM_001080437.3(SNED1):c.2192G>T (p.Ser731Ile)	MTERF4, SNED1 +1 more (S731I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166972	NM_001080437.3(SNED1):c.1717G>A (p.Gly573Ser)	MTERF4, SNED1 +1 more (G573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166971	NM_001080437.3(SNED1):c.1419G>C (p.Glu473Asp)	MTERF4, SNED1 +1 more (E473D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652108	NM_001080437.3(SNED1):c.3954C>T (p.Asn1318=)	MTERF4, SNED1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652107	NM_001080437.3(SNED1):c.3567C>T (p.Pro1189=)	MTERF4, SNED1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652106	NM_001080437.3(SNED1):c.2991C>T (p.Ala997=)	MTERF4, SNED1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652105	NM_001080437.3(SNED1):c.1947C>T (p.Phe649=)	MTERF4, SNED1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605186	NM_001080437.3(SNED1):c.2224C>A (p.His742Asn)	MTERF4, SNED1 +1 more (H742N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602260	NM_001080437.3(SNED1):c.3677C>T (p.Pro1226Leu)	MTERF4, SNED1 (P1226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589087	NM_001080437.3(SNED1):c.3772G>A (p.Ala1258Thr)	MTERF4, SNED1 (A1258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588972	NM_001080437.3(SNED1):c.3665C>T (p.Pro1222Leu)	MTERF4, SNED1 (P1222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569023	NM_001080437.3(SNED1):c.3697G>A (p.Asp1233Asn)	MTERF4, SNED1 (D1233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557146	NM_001080437.3(SNED1):c.1549G>A (p.Gly517Arg)	MTERF4, SNED1 +1 more (G517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555871	NM_001080437.3(SNED1):c.2098C>A (p.Pro700Thr)	MTERF4, SNED1 +1 more (P700T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554554	NM_001080437.3(SNED1):c.1588G>T (p.Val530Phe)	MTERF4, SNED1 +1 more (V530F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544335	NM_001080437.3(SNED1):c.1380G>C (p.Met460Ile)	MTERF4, SNED1 +1 more (M460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517513	NM_001080437.3(SNED1):c.3670C>T (p.Arg1224Cys)	MTERF4, SNED1 (R1224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512357	NM_001080437.3(SNED1):c.1801G>A (p.Glu601Lys)	MTERF4, SNED1 +1 more (E601K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487182	NM_001080437.3(SNED1):c.1530G>C (p.Met510Ile)	MTERF4, SNED1 +1 more (M510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470002	NM_001080437.3(SNED1):c.3293C>T (p.Thr1098Met)	MTERF4, SNED1 (T1098M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463733	NM_001080437.3(SNED1):c.2045A>G (p.His682Arg)	MTERF4, SNED1 +1 more (H682R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461716	NM_001080437.3(SNED1):c.1294G>A (p.Ala432Thr)	MTERF4, SNED1 +1 more (A432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455107	NM_001080437.3(SNED1):c.3221C>T (p.Thr1074Ile)	MTERF4, SNED1 (T1074I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412438	NM_001080437.3(SNED1):c.3841G>A (p.Glu1281Lys)	MTERF4, SNED1 (E1281K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2403981	NM_001080437.3(SNED1):c.2194G>A (p.Ala732Thr)	MTERF4, SNED1 +1 more (A732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390942	NM_001080437.3(SNED1):c.1979C>T (p.Pro660Leu)	MTERF4, SNED1 +1 more (P660L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385901	NM_001080437.3(SNED1):c.3259G>A (p.Glu1087Lys)	MTERF4, SNED1 (E1087K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383254	NM_001080437.3(SNED1):c.4001G>A (p.Gly1334Glu)	MTERF4, SNED1 (G1334E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380539	NM_001080437.3(SNED1):c.2312G>A (p.Arg771His)	MTERF4, SNED1 +1 more (R771H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380430	NM_001080437.3(SNED1):c.3701A>G (p.His1234Arg)	MTERF4, SNED1 (H1234R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366053	NM_001080437.3(SNED1):c.1972C>T (p.Pro658Ser)	MTERF4, SNED1 +1 more (P658S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364936	NM_001080437.3(SNED1):c.3055A>G (p.Ser1019Gly)	MTERF4, SNED1 (S1019G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359136	NM_001080437.3(SNED1):c.3913G>A (p.Gly1305Arg)	MTERF4, SNED1 (G1305R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352737	NM_001080437.3(SNED1):c.2209C>T (p.Arg737Trp)	MTERF4, SNED1 +1 more (R737W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339067	NM_001080437.3(SNED1):c.3289C>T (p.Pro1097Ser)	MTERF4, SNED1 (P1097S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335057	NM_001080437.3(SNED1):c.3547G>A (p.Gly1183Arg)	MTERF4, SNED1 (G1183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333045	NM_001080437.3(SNED1):c.2137G>A (p.Gly713Ser)	MTERF4, SNED1 +1 more (G713S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319462	NM_001080437.3(SNED1):c.2759G>C (p.Ser920Thr)	MTERF4, SNED1 (S920T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317291	NM_001080437.3(SNED1):c.2138G>C (p.Gly713Ala)	MTERF4, SNED1 +1 more (G713A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316827	NM_001080437.3(SNED1):c.1588G>A (p.Val530Ile)	MTERF4, SNED1 +1 more (V530I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283791	NM_001080437.3(SNED1):c.1565A>G (p.Glu522Gly)	MTERF4, SNED1 +1 more (E522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281423	NM_001080437.3(SNED1):c.4142T>C (p.Val1381Ala)	MTERF4, SNED1 (V1381A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2280448	NM_001080437.3(SNED1):c.1454C>A (p.Thr485Asn)	MTERF4, SNED1 +1 more (T485N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268212	NM_001080437.3(SNED1):c.2009G>A (p.Gly670Asp)	MTERF4, SNED1 +1 more (G670D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268182	NM_001080437.3(SNED1):c.3937G>A (p.Glu1313Lys)	MTERF4, SNED1 (E1313K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263508	NM_001080437.3(SNED1):c.3086G>A (p.Arg1029Lys)	MTERF4, SNED1 (R1029K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235611	NM_001080437.3(SNED1):c.3641G>A (p.Arg1214Gln)	MTERF4, SNED1 (R1214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228637	NM_001080437.3(SNED1):c.2030C>T (p.Thr677Met)	MTERF4, SNED1 +1 more (T677M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228319	NM_001080437.3(SNED1):c.1987C>T (p.Arg663Trp)	MTERF4, SNED1 +1 more (R663W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222428	NM_001080437.3(SNED1):c.3910A>G (p.Ile1304Val)	MTERF4, SNED1 (I1304V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2215697	NM_001080437.3(SNED1):c.1600G>A (p.Asp534Asn)	MTERF4, SNED1 +1 more (D534N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213964	NM_001080437.3(SNED1):c.1975T>C (p.Ser659Pro)	SNED1, MTERF4 +1 more (S659P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210799	NM_001080437.3(SNED1):c.2834A>G (p.Tyr945Cys)	MTERF4, SNED1 (Y945C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209832	NM_001080437.3(SNED1):c.2588A>G (p.His863Arg)	LOC129935993, MTERF4 +2 more (H863R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208702	NM_001080437.3(SNED1):c.3487G>A (p.Asp1163Asn)	MTERF4, SNED1 (D1163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206407	NM_001080437.3(SNED1):c.1373G>C (p.Gly458Ala)	MTERF4, SNED1 +1 more (G458A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239219	NM_001080437.3(SNED1):c.3683T>C (p.Leu1228Pro)	MTERF4, SNED1 (L1228P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789575	NM_001080437.3(SNED1):c.2694G>A (p.Thr898=)	MTERF4, SNED1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787248	NM_001080437.3(SNED1):c.3896A>G (p.His1299Arg)	MTERF4, SNED1 (H1299R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 747127	NM_001080437.3(SNED1):c.2937C>T (p.Ser979=)	MTERF4, SNED1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721484	NM_001080437.3(SNED1):c.3498G>A (p.Pro1166=)	MTERF4, SNED1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717178	NM_001080437.3(SNED1):c.3916+3G>A	MTERF4, SNED1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 682405	NM_001080437.3(SNED1):c.4034-5C>T	MTERF4, SNED1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Links from Gene

Items: 82