ClinVar for Gene (Select 57591) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296156	NM_020831.6(MRTFA):c.2105C>T (p.Ala702Val)	MRTFA (A602V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296155	NM_020831.6(MRTFA):c.1625T>G (p.Val542Gly)	MRTFA (V442G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296154	NM_020831.6(MRTFA):c.2435C>T (p.Pro812Leu)	MRTFA (P747L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296153	NM_020831.6(MRTFA):c.2005G>T (p.Ala669Ser)	MRTFA (A569S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248133	NC_000022.10:g.(?_40807394)_(40831578_?)dup	MRTFA	Duplication	not provided	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3210108	NM_020831.6(MRTFA):c.980A>G (p.Lys327Arg)	MRTFA (K262R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210097	NM_020831.6(MRTFA):c.825C>A (p.Phe275Leu)	MRTFA (F175L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210084	NM_020831.6(MRTFA):c.598A>G (p.Ile200Val)	MRTFA (I100V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210044	NM_020831.6(MRTFA):c.2575G>A (p.Gly859Arg)	MRTFA (G794R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210038	NM_020831.6(MRTFA):c.2390C>T (p.Ala797Val)	MRTFA (A732V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210035	NM_020831.6(MRTFA):c.2312T>C (p.Val771Ala)	MRTFA (V671A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210022	NM_020831.6(MRTFA):c.2225T>G (p.Leu742Arg)	MRTFA (L677R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209979	NM_020831.6(MRTFA):c.1851G>C (p.Glu617Asp)	MRTFA (E552D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209970	NM_020831.6(MRTFA):c.1709C>T (p.Ser570Phe)	MRTFA (S570F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209947	NM_020831.6(MRTFA):c.1622T>C (p.Val541Ala)	MRTFA (V476A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209937	NM_020831.6(MRTFA):c.1576C>G (p.Leu526Val)	MRTFA (L526V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3023328	NM_020831.6(MRTFA):c.2196C>A (p.Pro732=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021938	NM_020831.6(MRTFA):c.2289A>T (p.Thr763=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019347	NM_020831.6(MRTFA):c.1653C>A (p.Pro551=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019060	NM_020831.6(MRTFA):c.1353+7G>T	MRTFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018941	NM_020831.6(MRTFA):c.749T>C (p.Leu250Pro)	MRTFA (L250P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014985	NM_020831.6(MRTFA):c.2473C>A (p.Pro825Thr)	MRTFA (P725T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006769	NM_020831.6(MRTFA):c.2327C>T (p.Ala776Val)	MRTFA (A676V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003968	NM_020831.6(MRTFA):c.2355C>T (p.Ser785=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002613	NM_020831.6(MRTFA):c.1220C>T (p.Pro407Leu)	MRTFA (P307L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002188	NM_020831.6(MRTFA):c.2409G>A (p.Gln803=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2997602	NM_020831.6(MRTFA):c.2439C>G (p.Leu813=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995232	NM_020831.6(MRTFA):c.2689C>T (p.Leu897Phe)	MRTFA (L797F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994344	NM_020831.6(MRTFA):c.1540C>T (p.Arg514Trp)	MRTFA (R414W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991936	NM_020831.6(MRTFA):c.573T>G (p.Val191=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991614	NM_020831.6(MRTFA):c.2579-4G>A	MRTFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990305	NM_020831.6(MRTFA):c.1507G>A (p.Ala503Thr)	MRTFA (A453T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989192	NM_020831.6(MRTFA):c.1389A>G (p.Ser463=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986414	NM_020831.6(MRTFA):c.2724C>T (p.Pro908=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985466	NM_020831.6(MRTFA):c.2179G>A (p.Ala727Thr)	MRTFA (A627T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984313	NM_020831.6(MRTFA):c.2268C>G (p.Pro756=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983205	NM_020831.6(MRTFA):c.1483G>T (p.Ala495Ser)	MRTFA (A430S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981502	NM_020831.6(MRTFA):c.2224C>T (p.Leu742=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980131	NM_020831.6(MRTFA):c.781G>C (p.Val261Leu)	MRTFA (V196L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977189	NM_020831.6(MRTFA):c.2365C>T (p.Pro789Ser)	MRTFA (P724S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975891	NM_020831.6(MRTFA):c.854C>A (p.Pro285Gln)	MRTFA (P185Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975114	NM_020831.6(MRTFA):c.1508C>T (p.Ala503Val)	MRTFA (A453V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974504	NM_020831.6(MRTFA):c.1953C>G (p.Leu651=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974486	NM_020831.6(MRTFA):c.2076C>T (p.Gly692=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973280	NM_020831.6(MRTFA):c.1736T>C (p.Met579Thr)	MRTFA (M514T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973270	NM_020831.6(MRTFA):c.2072T>C (p.Leu691Pro)	MRTFA (L626P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971755	NM_020831.6(MRTFA):c.306G>A (p.Pro102=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2970699	NM_020831.6(MRTFA):c.2963T>C (p.Met988Thr)	MRTFA (M988T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2970680	NM_020831.6(MRTFA):c.1131GCA[7] (p.Gln381_His382insGlnGln)	MRTFA	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2967798	NM_020831.6(MRTFA):c.1353+13T>C	MRTFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967391	NM_020831.6(MRTFA):c.1086C>T (p.Ile362=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966883	NM_020831.6(MRTFA):c.1863C>T (p.Arg621=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966662	NM_020831.6(MRTFA):c.2229G>A (p.Gly743=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966328	NM_020831.6(MRTFA):c.1489A>G (p.Thr497Ala)	MRTFA (T397A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965556	NM_020831.6(MRTFA):c.1513G>A (p.Glu505Lys)	MRTFA (E455K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965333	NM_020831.6(MRTFA):c.2633C>T (p.Ser878Phe)	MRTFA (S828F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964954	NM_020831.6(MRTFA):c.2824G>A (p.Asp942Asn)	MRTFA (D942N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2962853	NM_020831.6(MRTFA):c.928-20C>T	MRTFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961993	NM_020831.6(MRTFA):c.307+9C>G	MRTFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961926	NM_020831.6(MRTFA):c.2167G>A (p.Val723Met)	MRTFA (V658M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959544	NM_020831.6(MRTFA):c.2518-16_2518-15del	MRTFA	Deletion (intron variant)	not provided	GBenign
Select item 2959221	NM_020831.6(MRTFA):c.1826G>A (p.Cys609Tyr)	MRTFA (C544Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958683	NM_020831.6(MRTFA):c.2097C>T (p.Pro699=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956631	NM_020831.6(MRTFA):c.2010C>G (p.Pro670=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908793	NM_020831.6(MRTFA):c.1815C>T (p.Ala605=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908652	NM_020831.6(MRTFA):c.1773C>T (p.Ala591=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908300	NM_020831.6(MRTFA):c.675C>T (p.Pro225=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908069	NM_020831.6(MRTFA):c.2139T>C (p.Ala713=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906545	NM_020831.6(MRTFA):c.1711A>G (p.Thr571Ala)	MRTFA (T471A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903761	NM_020831.6(MRTFA):c.2784C>G (p.Thr928=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903636	NM_020831.6(MRTFA):c.2238C>T (p.Gly746=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902505	NM_020831.6(MRTFA):c.1992C>T (p.Pro664=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902457	NM_020831.6(MRTFA):c.2225T>C (p.Leu742Pro)	MRTFA (L692P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897244	NM_020831.6(MRTFA):c.3039C>T (p.Phe1013=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892263	NM_020831.6(MRTFA):c.1032G>A (p.Pro344=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886596	NM_020831.6(MRTFA):c.1976A>G (p.Lys659Arg)	MRTFA (K559R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884322	NM_020831.6(MRTFA):c.1375C>T (p.Leu459=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882297	NM_020831.6(MRTFA):c.1191C>T (p.Gly397=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881633	NM_020831.6(MRTFA):c.1614C>T (p.Ser538=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879955	NM_020831.6(MRTFA):c.2093A>G (p.Asn698Ser)	MRTFA (N633S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878377	NM_020831.6(MRTFA):c.1696G>T (p.Gly566Cys)	MRTFA (G466C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877174	NM_020831.6(MRTFA):c.2420A>G (p.Glu807Gly)	MRTFA (E742G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875861	NM_020831.6(MRTFA):c.1272G>A (p.Gly424=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874709	NM_020831.6(MRTFA):c.1027C>T (p.Pro343Ser)	MRTFA (P243S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874141	NM_020831.6(MRTFA):c.2249T>C (p.Ile750Thr)	MRTFA (I685T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873387	NM_020831.6(MRTFA):c.2579-20C>T	MRTFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872518	NM_020831.6(MRTFA):c.1654C>T (p.Pro552Ser)	MRTFA (P452S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869285	NM_020831.6(MRTFA):c.2717G>C (p.Gly906Ala)	MRTFA (G906A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868421	NM_020831.6(MRTFA):c.2889C>T (p.Thr963=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865067	NM_020831.6(MRTFA):c.439+10T>C	MRTFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855593	NM_020831.6(MRTFA):c.1079_1080delinsTT (p.Ala360Val)	MRTFA (A295V +3 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2855592	NM_020831.6(MRTFA):c.2517+20C>G	MRTFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854409	NM_020831.6(MRTFA):c.2909C>G (p.Pro970Arg)	MRTFA (P970R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851863	NM_020831.6(MRTFA):c.2716G>A (p.Gly906Ser)	MRTFA (G806S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851384	NM_020831.6(MRTFA):c.440-14T>C	MRTFA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2848237	NM_020831.6(MRTFA):c.1322G>A (p.Gly441Glu)	MRTFA (G376E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846773	NM_020831.6(MRTFA):c.2434C>T (p.Pro812Ser)	MRTFA (P747S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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