ClinVar for MedGen (Select 383145) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254892	NM_052859.4(RFT1):c.1208+1G>T	RFT1	Single nucleotide variant (splice donor variant)	RFT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3246905	NC_000003.11:g.(?_53145826)_(53157876_?)dup	RFT1	Duplication	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 3021241	NM_052859.4(RFT1):c.34C>A (p.Arg12=)	LOC129936883, RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 3010612	NM_052859.4(RFT1):c.613C>T (p.Leu205=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 3009431	NM_052859.4(RFT1):c.1459-17A>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 3001999	NM_052859.4(RFT1):c.498G>A (p.Leu166=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 3001738	NM_052859.4(RFT1):c.1359C>T (p.Tyr453=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2991598	NM_052859.4(RFT1):c.776-16G>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2991403	NM_052859.4(RFT1):c.1143G>C (p.Leu381=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2986824	NM_052859.4(RFT1):c.27C>T (p.His9=)	LOC129936883, RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2986605	NM_052859.4(RFT1):c.63+20T>C	LOC129936883, RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2919820	NM_052859.4(RFT1):c.267-13dup	RFT1	Duplication (intron variant)	RFT1-congenital disorder of glycosylation	GBenign
Select item 2916620	NM_052859.4(RFT1):c.1167G>A (p.Glu389=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2913215	NM_052859.4(RFT1):c.1102+8C>A	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2903935	NM_052859.4(RFT1):c.384C>T (p.Leu128=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2903260	NM_052859.4(RFT1):c.958-13_958-9del	RFT1	Deletion (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2898104	NM_052859.4(RFT1):c.267-4C>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2895393	NM_052859.4(RFT1):c.267-20del	RFT1	Deletion (intron variant)	RFT1-congenital disorder of glycosylation	GBenign
Select item 2878428	NM_052859.4(RFT1):c.1163C>T (p.Thr388Ile)	RFT1 (T388I)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2872430	NM_052859.4(RFT1):c.1032T>A (p.Thr344=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2856864	NM_052859.4(RFT1):c.775+9A>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2856666	NM_052859.4(RFT1):c.150-14C>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2849155	NM_052859.4(RFT1):c.827-3dup	RFT1	Duplication (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2831586	NM_052859.4(RFT1):c.150-17C>T	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2821574	NM_052859.4(RFT1):c.558+10A>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2815915	NM_052859.4(RFT1):c.253C>T (p.Leu85=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2815109	NM_052859.4(RFT1):c.266+20G>A	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2811594	NM_052859.4(RFT1):c.368T>C (p.Val123Ala)	RFT1 (V123A)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2805678	NM_052859.4(RFT1):c.129C>T (p.Ile43=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2805239	NM_052859.4(RFT1):c.786T>C (p.Tyr262=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2804759	NM_052859.4(RFT1):c.1326G>A (p.Arg442=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2784334	NM_052859.4(RFT1):c.33C>T (p.Ala11=)	LOC129936883, RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2775803	NM_052859.4(RFT1):c.1102+17T>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2769969	NM_052859.4(RFT1):c.738T>C (p.Phe246=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2769263	NM_052859.4(RFT1):c.1398C>T (p.His466=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2762668	NM_052859.4(RFT1):c.30G>A (p.Ala10=)	LOC129936883, RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2757473	NM_052859.4(RFT1):c.1510G>C (p.Val504Leu)	RFT1 (V504L)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2753066	NM_052859.4(RFT1):c.156G>T (p.Thr52=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2751735	NM_052859.4(RFT1):c.697-11_697-10dup	RFT1	Duplication (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2749804	NM_052859.4(RFT1):c.642A>G (p.Gln214=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2749275	NM_052859.4(RFT1):c.1103-6T>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2743080	NM_052859.4(RFT1):c.1401A>T (p.Leu467=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2737478	NM_052859.4(RFT1):c.1608C>T (p.Arg536=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2731462	NM_052859.4(RFT1):c.1515G>A (p.Gly505=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2727051	NM_052859.4(RFT1):c.776-13T>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2724173	NM_052859.4(RFT1):c.958-19C>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2724096	NM_052859.4(RFT1):c.559-14del	RFT1	Deletion (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2721897	NM_052859.4(RFT1):c.697-24GTTTT[2]	RFT1	Microsatellite (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2720006	NM_052859.4(RFT1):c.351T>C (p.Pro117=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2718923	NM_052859.4(RFT1):c.266+13T>A	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2707579	NM_052859.4(RFT1):c.456G>C (p.Lys152Asn)	RFT1 (K152N)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2582408	NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)	RFT1 (N385S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2572513	NM_052859.4(RFT1):c.229C>T (p.Arg77Ter)	RFT1 (R77*)	Single nucleotide variant (nonsense)	RFT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2572506	NM_052859.4(RFT1):c.1458+5G>A	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2533037	NM_052859.4(RFT1):c.74G>A (p.Arg25Gln)	RFT1 (R25Q)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2435418	NM_052859.4(RFT1):c.1459-2A>G	RFT1	Single nucleotide variant (splice acceptor variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2427853	NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)	RFT1 (H459Y)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2427148	NC_000003.11:g.(?_53155766)_(53156657_?)del	RFT1	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2427147	NC_000003.11:g.(?_53125919)_(53164416_?)dup	RFT1	Duplication	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2427146	NC_000003.11:g.(?_53133377)_(53133522_?)del	RFT1	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2420449	NM_052859.4(RFT1):c.510C>T (p.Leu170=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2418769	NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp)	RFT1 (G430D)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2418673	NM_052859.4(RFT1):c.1261C>G (p.Leu421Val)	RFT1 (L421V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2416999	NM_052859.4(RFT1):c.673T>A (p.Leu225Ile)	RFT1 (L225I)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2415577	NM_052859.4(RFT1):c.374T>C (p.Leu125Pro)	RFT1 (L125P)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2415309	NM_052859.4(RFT1):c.144T>C (p.Asn48=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2413211	NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)	RFT1 (T519A)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2197658	NM_052859.4(RFT1):c.501A>G (p.Thr167=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2194176	NM_052859.4(RFT1):c.34C>G (p.Arg12Gly)	LOC129936883, RFT1 (R12G)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2193675	NM_052859.4(RFT1):c.1103-14T>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2192585	NM_052859.4(RFT1):c.230G>A (p.Arg77Gln)	RFT1 (R77Q)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2191079	NM_052859.4(RFT1):c.335A>C (p.Asp112Ala)	RFT1 (D112A)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2187936	NM_052859.4(RFT1):c.1386G>A (p.Leu462=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2187089	NM_052859.4(RFT1):c.1348A>G (p.Ile450Val)	RFT1 (I450V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2185915	NM_052859.4(RFT1):c.173C>T (p.Thr58Ile)	RFT1 (T58I)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2171602	NM_052859.4(RFT1):c.56T>G (p.Leu19Arg)	LOC129936883, RFT1 (L19R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2160609	NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser)	RFT1 (G494S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2157439	NM_052859.4(RFT1):c.1416C>T (p.Leu472=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2149604	NM_052859.4(RFT1):c.272C>T (p.Pro91Leu)	RFT1 (P91L)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2146681	NM_052859.4(RFT1):c.54C>T (p.Leu18=)	LOC129936883, RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2144279	NM_052859.4(RFT1):c.208T>C (p.Cys70Arg)	RFT1 (C70R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2144270	NM_052859.4(RFT1):c.904A>G (p.Ile302Val)	RFT1 (I302V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2132903	NM_052859.4(RFT1):c.973G>A (p.Ala325Thr)	RFT1 (A325T)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2128606	NM_052859.4(RFT1):c.634A>G (p.Lys212Glu)	RFT1 (K212E)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2128105	NM_052859.4(RFT1):c.64-3T>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2124684	NM_052859.4(RFT1):c.775+20G>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2123254	NM_052859.4(RFT1):c.150-1G>C	RFT1	Single nucleotide variant (splice acceptor variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2120314	NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys)	RFT1 (F475C)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2114809	NM_052859.4(RFT1):c.1458+15G>C	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2114522	NM_052859.4(RFT1):c.958-9T>G	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2111444	NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro)	RFT1 (L409P)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2110002	NM_052859.4(RFT1):c.658A>G (p.Arg220Gly)	RFT1 (R220G)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2107432	NM_052859.4(RFT1):c.620C>G (p.Ser207Cys)	RFT1 (S207C)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2106114	NM_052859.4(RFT1):c.1063C>G (p.Leu355Val)	RFT1 (L355V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2103593	NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr)	RFT1 (P461T)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2094589	NM_052859.4(RFT1):c.730T>A (p.Trp244Arg)	RFT1 (W244R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2092418	NM_052859.4(RFT1):c.4G>C (p.Gly2Arg)	LOC129936883, RFT1 (G2R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2091743	NM_052859.4(RFT1):c.58C>T (p.Leu20=)	LOC129936883, RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 2091395	NM_052859.4(RFT1):c.1052C>G (p.Ser351Cys)	RFT1 (S351C)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance

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