ClinVar for MedGen (Select 124417) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247681	NC_000001.10:g.(?_33480103)_(33480215_?)del	AK2	Deletion	Reticular dysgenesis	GPathogenic
Select item 3014306	NM_001625.4(AK2):c.219+16C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2991427	NM_001625.4(AK2):c.219+20T>C	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2977817	NM_001625.4(AK2):c.87G>A (p.Gly29=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2899401	NM_001625.4(AK2):c.49C>A (p.Arg17=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2882624	NM_001625.4(AK2):c.453C>A (p.Ser151=)	AK2 (L120I)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2878272	NM_001625.4(AK2):c.698_703delinsGACACATAAACATAAACATAAACTCA (p.Lys233fs)	AK2 (K185fs +1 more)	Indel (frameshift variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 2872658	NM_001625.4(AK2):c.465G>A (p.Glu155=)	AK2 (V124I)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2799144	NM_001625.4(AK2):c.132A>G (p.Leu44=)	AK2	Single nucleotide variant (synonymous variant +3 more)	Reticular dysgenesis	GLikely benign
Select item 2783119	NM_001625.4(AK2):c.129T>C (p.His43=)	AK2	Single nucleotide variant (synonymous variant +3 more)	Reticular dysgenesis	GLikely benign
Select item 2766140	NM_001625.4(AK2):c.220-12C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2757037	NM_001625.4(AK2):c.141G>T (p.Gly47=)	AK2	Single nucleotide variant (synonymous variant +3 more)	Reticular dysgenesis	GLikely benign
Select item 2747099	NM_001625.4(AK2):c.98C>A (p.Pro33His)	AK2 (P33H)	Single nucleotide variant (missense variant +3 more)	Reticular dysgenesis	GUncertain significance
Select item 2740565	NM_001625.4(AK2):c.498+14G>A	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2696915	NM_001625.4(AK2):c.331-15C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2501776	NM_001625.4(AK2):c.79G>C (p.Gly27Arg)	AK2, LOC129930068 (G27R)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 2413353	NM_001625.4(AK2):c.165T>C (p.Ala55=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2192536	NM_001625.4(AK2):c.471C>T (p.Asn157=)	AK2 (P126S)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2188368	NM_001625.4(AK2):c.426-19T>C	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2161671	NM_001625.4(AK2):c.426-17_426-14del	AK2	Deletion (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2129967	NM_001625.4(AK2):c.346G>A (p.Glu116Lys)	AK2 (E116K +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 2124398	NM_001625.4(AK2):c.374_375del (p.Val125fs)	AK2 (V125fs +2 more)	Microsatellite (frameshift variant +1 more)	Reticular dysgenesis	GPathogenic
Select item 2123374	NM_001625.4(AK2):c.94-8C>G	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 2110369	NM_001625.4(AK2):c.196G>A (p.Ala66Thr)	AK2 (A18T +1 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 2090479	NM_001625.4(AK2):c.463G>A (p.Glu155Lys)	AK2 (E155K +4 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 2088527	NM_001625.4(AK2):c.432T>G (p.Ile144Met)	AK2 (I96M +4 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 2006999	NM_001625.4(AK2):c.425+14G>C	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1983734	NM_001625.4(AK2):c.498+14G>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1983658	NM_001625.4(AK2):c.429G>C (p.Leu143=)	AK2 (D112H)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1969626	NM_001625.4(AK2):c.330+18T>C	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1897639	NM_001625.4(AK2):c.424A>G (p.Arg142Gly)	AK2 (R142G +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 1672490	NM_001625.4(AK2):c.499-11C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GBenign
Select item 1654695	NM_001625.4(AK2):c.162G>A (p.Val54=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1632785	NM_001625.4(AK2):c.438C>T (p.Pro146=)	AK2 (Q115*)	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1611690	NM_001625.4(AK2):c.654C>T (p.Val218=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1603566	NM_001625.4(AK2):c.219+20T>A	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1599150	NM_001625.4(AK2):c.543G>C (p.Lys181Asn)	AK2 (K133N +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GBenign
Select item 1593206	NM_001625.4(AK2):c.611G>A (p.Arg204Gln)	AK2 (R156Q +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1586666	NM_001625.4(AK2):c.331-11T>C	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1584508	NM_001625.4(AK2):c.331-12A>G	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1580969	NM_001625.4(AK2):c.343A>T (p.Met115Leu)	AK2 (M115L +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GLikely benign
Select item 1546603	NM_001625.4(AK2):c.60G>A (p.Leu20=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1540466	NM_001625.4(AK2):c.499-13T>C	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1540463	NM_001625.4(AK2):c.93+17G>A	AK2, LOC129930068	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1524282	NM_001625.4(AK2):c.661G>A (p.Ala221Thr)	AK2 (A179T +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 1519453	NM_001625.4(AK2):c.605G>C (p.Arg202Thr)	AK2 (R154T +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1516639	NM_001625.4(AK2):c.410G>A (p.Arg137Gln)	AK2 (R89Q +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 1488022	NM_001625.4(AK2):c.634G>A (p.Ala212Thr)	AK2 (A164T +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 1480201	NM_001625.4(AK2):c.472C>T (p.Pro158Ser)	AK2 (P150S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1478579	NM_001625.4(AK2):c.575C>A (p.Thr192Asn)	AK2 (T144N +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1470936	NM_001625.4(AK2):c.89C>A (p.Thr30Asn)	AK2, LOC129930068 (T30N)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1465273	NM_001625.4(AK2):c.710T>C (p.Met237Thr)	AK2 (M237T +1 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1457960	NC_000001.10:g.(?_33473829)_(33478866_?)del	AK2	Deletion	Reticular dysgenesis	GPathogenic
Select item 1455489	NC_000001.10:g.(?_33490023)_(33502429_?)del	AK2	Deletion	Reticular dysgenesis	GPathogenic
Select item 1453536	NM_001625.4(AK2):c.84dup (p.Gly29fs)	AK2, LOC129930068 (G29fs)	Duplication (frameshift variant +2 more)	Reticular dysgenesis	GPathogenic
Select item 1449705	NM_001625.4(AK2):c.505G>A (p.Gly169Arg)	AK2 (G121R +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1443169	NC_000001.10:g.(?_33502317)_(33502429_?)dup	AK2	Duplication	Reticular dysgenesis	GUncertain significance
Select item 1436300	NM_001625.4(AK2):c.409C>T (p.Arg137Ter)	AK2 (R89* +2 more)	Single nucleotide variant (nonsense +1 more)	Reticular dysgenesis	GPathogenic
Select item 1428648	NM_001625.4(AK2):c.5C>T (p.Ala2Val)	AK2, LOC129930068 (A2V)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1422932	NM_001625.4(AK2):c.349A>G (p.Lys117Glu)	AK2 (K117E +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 1397284	NM_001625.4(AK2):c.708_710dup (p.Val236_Met237insIle)	AK2	Duplication (inframe_insertion +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1397277	NM_001625.4(AK2):c.154G>C (p.Ala52Pro)	AK2 (A4P +1 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1393470	NM_001625.4(AK2):c.580A>G (p.Thr194Ala)	AK2 (T146A +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1391420	NM_001625.4(AK2):c.224G>A (p.Ser75Asn)	AK2 (S75N +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 1384705	NM_001625.4(AK2):c.498C>T (p.Asp166=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1384263	NM_001625.4(AK2):c.714dup (p.Ile239fs)	AK2 (I191fs +1 more)	Duplication (frameshift variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1382763	NM_001625.4(AK2):c.35A>G (p.Tyr12Cys)	AK2, LOC129930068 (Y12C)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1381684	NM_001625.4(AK2):c.220-2dup	AK2	Duplication (splice acceptor variant)	Reticular dysgenesis	GUncertain significance
Select item 1379433	NM_001625.4(AK2):c.597_599dup (p.Tyr200Ter)	AK2 (Y158* +3 more)	Duplication (nonsense +2 more)	Reticular dysgenesis	GPathogenic
Select item 1351210	NM_001625.4(AK2):c.545C>T (p.Ala182Val)	AK2 (A182V +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1169304	NM_001625.4(AK2):c.582C>T (p.Thr194=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis +1 more	GBenign
Select item 1166849	NM_001625.4(AK2):c.426-20_426-19del	AK2	Microsatellite (intron variant)	Reticular dysgenesis	GBenign
Select item 1165996	NM_001625.4(AK2):c.54C>T (p.Ala18=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1153957	NM_001625.4(AK2):c.660C>T (p.Phe220=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1151168	NM_001625.4(AK2):c.220-7C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1138834	NM_001625.4(AK2):c.499-5C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1127853	NM_001625.4(AK2):c.57G>A (p.Val19=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1127101	NM_001625.4(AK2):c.216A>G (p.Lys72=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1121217	NM_001625.4(AK2):c.9C>T (p.Pro3=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1116104	NM_001625.4(AK2):c.333C>T (p.Leu111=)	AK2	Single nucleotide variant (synonymous variant +1 more)	Reticular dysgenesis	GLikely benign
Select item 1093105	NM_001625.4(AK2):c.499-8G>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1089369	NM_001625.4(AK2):c.624C>T (p.Ser208=)	AK2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1086743	NM_001625.4(AK2):c.648C>T (p.Pro216=)	AK2	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis +1 more	GLikely benign
Select item 1067803	NM_001625.4(AK2):c.614_615del (p.Gly205fs)	AK2 (G157fs +3 more)	Deletion (frameshift variant +2 more)	Reticular dysgenesis	GLikely pathogenic
Select item 1057871	NM_001625.4(AK2):c.179T>A (p.Leu60Gln)	AK2 (L12Q +1 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1055414	NM_001625.4(AK2):c.331-3C>T	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GUncertain significance
Select item 1052725	NM_001625.4(AK2):c.557G>A (p.Arg186His)	AK2 (R138H +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1043936	NM_001625.4(AK2):c.79G>A (p.Gly27Ser)	AK2, LOC129930068 (G27S)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1017812	NM_001625.4(AK2):c.530A>G (p.Asp177Gly)	AK2 (D129G +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1016651	NM_001625.4(AK2):c.322G>A (p.Ala108Thr)	AK2 (A108T +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 1015901	NM_001625.4(AK2):c.630C>G (p.Ile210Met)	AK2 (I162M +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1001459	NM_001625.4(AK2):c.622T>C (p.Ser208Pro)	AK2 (S160P +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 998950	NM_001625.4(AK2):c.610C>T (p.Arg204Trp)	AK2 (R156W +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 968302	NM_001625.4(AK2):c.226G>A (p.Asp76Asn)	AK2 (D28N +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 950364	NM_001625.4(AK2):c.128A>G (p.His43Arg)	AK2 (H43R)	Single nucleotide variant (missense variant +3 more)	Reticular dysgenesis	GUncertain significance
Select item 949742	NM_001625.4(AK2):c.284G>A (p.Gly95Asp)	AK2 (G53D +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance
Select item 944829	NM_001625.4(AK2):c.31G>A (p.Glu11Lys)	AK2, LOC129930068 (E11K)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 944021	NM_001625.4(AK2):c.449G>A (p.Arg150His)	AK2 (R142H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 934715	NM_001625.4(AK2):c.203T>C (p.Met68Thr)	AK2 (M68T +1 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 850228	NM_001625.4(AK2):c.229G>A (p.Glu77Lys)	AK2 (E29K +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis	GUncertain significance

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