54916[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 150516	GRCh38/hg38 14q22.3(chr14:56345200-56917270)x3	LINC02284, LOC101927690 +13 more	Copy number gain	See cases	GLikely benign
Select item 746033	NM_017799.4(TMEM260):c.33C>T (p.Ala11=)	LOC130055718, TMEM260	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175852	NM_017799.4(TMEM260):c.35del (p.Gln12fs)	LOC130055718, TMEM260 (Q12fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3179374	NM_017799.4(TMEM260):c.59T>C (p.Leu20Pro)	LOC130055718, TMEM260 (L20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3065317	NM_017799.4(TMEM260):c.74del (p.Gly25fs)	LOC130055718, TMEM260 (G25fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 641117	NM_017799.4(TMEM260):c.75C>T (p.Gly25=)	LOC130055718, TMEM260	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2485968	NM_017799.4(TMEM260):c.91G>C (p.Ala31Pro)	LOC130055718, TMEM260 (A31P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369054	NM_017799.4(TMEM260):c.103G>A (p.Ala35Thr)	LOC130055718, TMEM260 (A35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525333	NM_017799.4(TMEM260):c.107T>C (p.Val36Ala)	LOC130055718, TMEM260 (V36A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511100	NM_017799.4(TMEM260):c.116T>C (p.Val39Ala)	LOC130055718, TMEM260 (V39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 871221	NM_017799.4(TMEM260):c.116T>A (p.Val39Glu)	LOC130055718, TMEM260 (V39E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2332896	NM_017799.4(TMEM260):c.133C>T (p.Pro45Ser)	LOC130055718, TMEM260 (P45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038953	NM_017799.4(TMEM260):c.136C>A (p.Pro46Thr)	LOC130055718, TMEM260 (P46T)	Single nucleotide variant (missense variant)	TMEM260-related disorder	GBenign
Select item 2476305	NM_017799.4(TMEM260):c.158C>T (p.Ser53Phe)	LOC130055718, TMEM260 (S53F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740054	NM_017799.4(TMEM260):c.160+7T>A	LOC130055718, TMEM260	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319995	NM_017799.4(TMEM260):c.160+2159_344+1212del	TMEM260	Deletion (splice acceptor variant +1 more)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 3337701	NM_017799.4(TMEM260):c.170_171del (p.Ile57fs)	TMEM260 (I57fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3327056	NM_017799.4(TMEM260):c.181C>T (p.His61Tyr)	TMEM260 (H61Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1202596	NM_017799.4(TMEM260):c.193-2A>G	TMEM260	Single nucleotide variant (splice acceptor variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 3179370	NM_017799.4(TMEM260):c.205C>G (p.Pro69Ala)	TMEM260 (P69A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542388	NM_017799.4(TMEM260):c.237A>T (p.Lys79Asn)	TMEM260 (K79N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242554	NM_017799.4(TMEM260):c.241G>A (p.Ala81Thr)	TMEM260 (A81T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582624	NM_017799.4(TMEM260):c.257del (p.Pro86fs)	TMEM260 (P86fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 718530	NM_017799.4(TMEM260):c.261T>C (p.Phe87=)	TMEM260	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3179372	NM_017799.4(TMEM260):c.268A>G (p.Ile90Val)	TMEM260 (I90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2513718	NM_017799.4(TMEM260):c.284A>G (p.Asn95Ser)	TMEM260 (N95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033445	NM_017799.4(TMEM260):c.299T>C (p.Leu100Ser)	TMEM260 (L100S)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 1319994	NM_017799.4(TMEM260):c.344G>A (p.Arg115Lys)	TMEM260 (R115K)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 1342224	NM_017799.4(TMEM260):c.345-32A>G	TMEM260	Single nucleotide variant (intron variant)	Structural heart defects and renal anomalies syndrome +1 more	GBenign
Select item 689637	NM_017799.4(TMEM260):c.377C>T (p.Ala126Val)	TMEM260 (A126V)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 1175853	NM_017799.4(TMEM260):c.400C>T (p.Arg134Cys)	TMEM260 (R134C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2599038	NM_017799.4(TMEM260):c.401G>A (p.Arg134His)	TMEM260 (R134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735634	NM_017799.4(TMEM260):c.408A>T (p.Thr136=)	TMEM260	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557742	NM_017799.4(TMEM260):c.473C>T (p.Ala158Val)	TMEM260 (A158V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437115	NM_017799.4(TMEM260):c.529A>G (p.Lys177Glu)	TMEM260 (K177E)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 3179373	NM_017799.4(TMEM260):c.542T>G (p.Phe181Cys)	TMEM260 (F181C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330405	NM_017799.4(TMEM260):c.545G>A (p.Cys182Tyr)	TMEM260 (C182Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311133	NM_017799.4(TMEM260):c.577A>G (p.Ile193Val)	TMEM260 (I193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437116	NM_017799.4(TMEM260):c.604C>T (p.Pro202Ser)	TMEM260 (P202S)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 2320339	NM_017799.4(TMEM260):c.605C>G (p.Pro202Arg)	TMEM260 (P202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028062	NM_017799.4(TMEM260):c.649G>C (p.Gly217Arg)	TMEM260 (G217R)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 782589	NM_017799.4(TMEM260):c.668G>T (p.Ser223Ile)	TMEM260 (S223I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2605407	NM_017799.4(TMEM260):c.676T>G (p.Phe226Val)	TMEM260 (F226V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355901	NM_017799.4(TMEM260):c.685G>A (p.Gly229Ser)	TMEM260 (G229S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179375	NM_017799.4(TMEM260):c.694C>T (p.Pro232Ser)	TMEM260 (P232S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179376	NM_017799.4(TMEM260):c.709C>A (p.Pro237Thr)	TMEM260 (P237T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 987334	NM_017799.4(TMEM260):c.721dup (p.Tyr241fs)	TMEM260 (Y241fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3179377	NM_017799.4(TMEM260):c.730C>T (p.His244Tyr)	TMEM260 (H244Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056063	NM_017799.4(TMEM260):c.733G>T (p.Ala245Ser)	TMEM260 (A245S)	Single nucleotide variant (missense variant)	TMEM260-related disorder	GBenign
Select item 1678358	NM_017799.4(TMEM260):c.733G>A (p.Ala245Thr)	TMEM260 (A245T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2595331	NM_017799.4(TMEM260):c.737G>A (p.Arg246Gln)	TMEM260 (R246Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598331	NM_017799.4(TMEM260):c.752A>T (p.Asp251Val)	TMEM260 (D251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1070500	NM_017799.4(TMEM260):c.766dup (p.Gln256fs)	TMEM260 (Q256fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 718100	NM_017799.4(TMEM260):c.789C>T (p.Leu263=)	TMEM260	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3233362	NM_017799.4(TMEM260):c.817-9T>A	TMEM260	Single nucleotide variant (intron variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 1342225	NM_017799.4(TMEM260):c.858-14A>G	TMEM260	Single nucleotide variant (intron variant)	Structural heart defects and renal anomalies syndrome +1 more	GBenign
Select item 1992344	NM_017799.4(TMEM260):c.862del (p.Gln288fs)	TMEM260 (Q288fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 2634785	NM_017799.4(TMEM260):c.864A>G (p.Gln288=)	TMEM260	Single nucleotide variant (synonymous variant)	TMEM260-related disorder	GUncertain significance
Select item 2235628	NM_017799.4(TMEM260):c.878G>A (p.Arg293Lys)	TMEM260 (R293K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521916	NM_017799.4(TMEM260):c.955C>G (p.Pro319Ala)	TMEM260 (P319A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430741	NM_017799.4(TMEM260):c.998C>T (p.Ser333Leu)	TMEM260 (S333L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3327057	NM_017799.4(TMEM260):c.1052G>A (p.Gly351Asp)	TMEM260 (G351D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1076778	NM_017799.4(TMEM260):c.1070G>A (p.Trp357Ter)	TMEM260 (W357*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 746615	NM_017799.4(TMEM260):c.1092G>T (p.Val364=)	TMEM260	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3179359	NM_017799.4(TMEM260):c.1136C>A (p.Thr379Asn)	TMEM260 (T379N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327052	NM_017799.4(TMEM260):c.1192C>G (p.Leu398Val)	TMEM260 (L398V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179361	NM_017799.4(TMEM260):c.1193T>G (p.Leu398Arg)	TMEM260 (L398R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179360	NM_017799.4(TMEM260):c.1193T>C (p.Leu398Pro)	TMEM260 (L398P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327055	NM_017799.4(TMEM260):c.1210A>G (p.Ile404Val)	TMEM260 (I404V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179362	NM_017799.4(TMEM260):c.1225A>G (p.Ser409Gly)	TMEM260 (S409G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735906	NM_017799.4(TMEM260):c.1226+9T>C	TMEM260	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3179363	NM_017799.4(TMEM260):c.1227T>C (p.Ser409=)	TMEM260	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2461856	NM_017799.4(TMEM260):c.1232G>C (p.Cys411Ser)	TMEM260 (C411S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179365	NM_017799.4(TMEM260):c.1266C>G (p.Phe422Leu)	TMEM260 (F422L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327051	NM_017799.4(TMEM260):c.1288A>G (p.Met430Val)	TMEM260 (M430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327059	NM_017799.4(TMEM260):c.1373C>T (p.Pro458Leu)	TMEM260 (P458L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 426075	NM_017799.4(TMEM260):c.1393C>T (p.Gln465Ter)	TMEM260 (Q465*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1992345	NM_017799.4(TMEM260):c.1410C>A (p.Tyr470Ter)	TMEM260 (Y470*)	Single nucleotide variant (nonsense)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 773280	NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)	TMEM260 (E471K)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome +1 more	GLikely benign
Select item 753916	NM_017799.4(TMEM260):c.1441T>C (p.Leu481=)	TMEM260	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3179366	NM_017799.4(TMEM260):c.1466A>C (p.Asn489Thr)	TMEM260 (N489T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282548	NM_017799.4(TMEM260):c.1468C>T (p.Arg490Trp)	TMEM260 (R490W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233416	NM_017799.4(TMEM260):c.1472G>A (p.Trp491Ter)	TMEM260 (W491*)	Single nucleotide variant (nonsense)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 2262881	NM_017799.4(TMEM260):c.1489A>G (p.Ile497Val)	TMEM260 (I497V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242582	NM_017799.4(TMEM260):c.1519_1522dup (p.Tyr508fs)	TMEM260 (Y508fs)	Duplication (frameshift variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 3350254	NM_017799.4(TMEM260):c.1575T>C (p.Ile525=)	TMEM260	Single nucleotide variant (synonymous variant)	TMEM260-related disorder	GLikely benign
Select item 2391534	NM_017799.4(TMEM260):c.1586A>G (p.Asp529Gly)	TMEM260 (D529G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1264353	NM_017799.4(TMEM260):c.1644del (p.Pro549fs)	TMEM260 (P549fs)	Deletion (frameshift variant)	Type I truncus arteriosus	GPathogenic
Select item 2603278	NM_017799.4(TMEM260):c.1655T>C (p.Ile552Thr)	TMEM260 (I552T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322775	NM_017799.4(TMEM260):c.1671G>C (p.Glu557Asp)	TMEM260 (E557D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974872	NM_017799.4(TMEM260):c.1688del (p.Thr563fs)	TMEM260 (T563fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 1342226	NM_017799.4(TMEM260):c.1694G>A (p.Ser565Asn)	TMEM260 (S565N)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome +1 more	GBenign
Select item 1325201	NM_017799.4(TMEM260):c.1694_1698delinsA (p.Ser565fs)	TMEM260 (S565fs)	Indel (frameshift variant)	Structural heart defects and renal anomalies syndrome +1 more	GLikely pathogenic
Select item 748862	NM_017799.4(TMEM260):c.1695T>C (p.Ser565=)	TMEM260	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426076	NM_017799.4(TMEM260):c.1698_1701del (p.Tyr567fs)	TMEM260 (Y567fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 3327054	NM_017799.4(TMEM260):c.1711G>A (p.Glu571Lys)	TMEM260 (E571K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636493	NM_017799.4(TMEM260):c.1724G>T (p.Arg575Met)	TMEM260 (R575M)	Single nucleotide variant (missense variant)	TMEM260-related disorder	GUncertain significance

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