ClinVar for Gene (Select 130916) - ClinVar - NCBI

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	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 3296586	NM_182501.4(MTERF4):c.386C>T (p.Ser129Leu)	MTERF4 (S129L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296585	NM_182501.4(MTERF4):c.122G>A (p.Arg41His)	MTERF4 (R41H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3214517	NM_182501.4(MTERF4):c.776C>T (p.Thr259Ile)	MTERF4 (T259I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214500	NM_182501.4(MTERF4):c.524A>G (p.Lys175Arg)	MTERF4 (K175R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3214497	NM_182501.4(MTERF4):c.38G>A (p.Arg13His)	MTERF4 (R13H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214492	NM_182501.4(MTERF4):c.389A>C (p.Glu130Ala)	MTERF4 (E130A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214465	NM_182501.4(MTERF4):c.1081G>A (p.Asp361Asn)	MTERF4 (D173N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214460	NM_182501.4(MTERF4):c.1066A>G (p.Asn356Asp)	MTERF4 (N168D +1 more)	Single nucleotide variant (missense variant +2 more)	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 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685890	GRCh37/hg19 2q37.3(chr2:242016780-242193127)x3	ANO7, HDLBP +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2685008	GRCh37/hg19 2q37.3(chr2:241875829-242045631)x1	MTERF4, PASK +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
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 2618150	NM_182501.4(MTERF4):c.611A>C (p.Lys204Thr)	MTERF4 (K204T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2557875	NM_182501.4(MTERF4):c.143A>G (p.Asn48Ser)	MTERF4 (N48S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
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 2528575	NM_182501.4(MTERF4):c.170G>A (p.Cys57Tyr)	MTERF4 (C57Y)	Single nucleotide variant (missense variant +2 more)	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 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
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 2406455	NM_182501.4(MTERF4):c.182A>G (p.Asn61Ser)	MTERF4 (N61S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
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 2403056	NM_182501.4(MTERF4):c.8C>T (p.Ala3Val)	MTERF4 (A3V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2401408	NM_182501.4(MTERF4):c.143A>T (p.Asn48Ile)	MTERF4 (N48I)	Single nucleotide variant (missense variant +2 more)	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 2385255	NM_182501.4(MTERF4):c.341G>C (p.Ser114Thr)	MTERF4 (S114T)	Single nucleotide variant (missense variant +2 more)	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 2377525	NM_182501.4(MTERF4):c.110C>T (p.Ala37Val)	MTERF4 (A37V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2362996	NM_182501.4(MTERF4):c.992C>T (p.Thr331Ile)	MTERF4 (T143I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362902	NM_182501.4(MTERF4):c.104C>T (p.Thr35Met)	MTERF4 (T35M)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
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 2341143	NM_182501.4(MTERF4):c.121C>T (p.Arg41Cys)	MTERF4 (R41C)	Single nucleotide variant (missense variant +2 more)	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 2307156	NM_182501.4(MTERF4):c.671G>A (p.Arg224Gln)	MTERF4 (R36Q +1 more)	Single nucleotide variant (missense variant +2 more)	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 2247120	NM_182501.4(MTERF4):c.586G>A (p.Asp196Asn)	MTERF4 (D196N +1 more)	Single nucleotide variant (missense variant +2 more)	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

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