ClinVar for MedGen (Select 382634) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3584228	NM_006267.5(RANBP2):c.8664G>C (p.Gln2888His)	RANBP2 (Q2887H +3 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 3584227	NM_006267.5(RANBP2):c.7924G>A (p.Ala2642Thr)	RANBP2 (A2641T +2 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 3584226	NM_006267.5(RANBP2):c.3210G>T (p.Leu1070=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 3247345	NC_000002.11:g.(?_109368307)_(109579739_?)del	CCDC138, EDAR +1 more	Deletion	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 3242095	NM_006267.5(RANBP2):c.7795T>C (p.Ser2599Pro)	RANBP2 (S2598P +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 3065984	NM_006267.5(RANBP2):c.2070G>T (p.Lys690Asn)	RANBP2 (K689N +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GLikely pathogenic
Select item 3065283	NM_006267.5(RANBP2):c.5822_5823insTG (p.Ser1942fs)	RANBP2 (S1941fs +1 more)	Insertion (frameshift variant)	Familial acute necrotizing encephalopathy	GLikely pathogenic
Select item 3004549	NM_006267.5(RANBP2):c.1702C>T (p.His568Tyr)	RANBP2 (H567Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2995916	NM_006267.5(RANBP2):c.1746T>C (p.Leu582=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2992688	NM_006267.5(RANBP2):c.1991T>C (p.Ile664Thr)	RANBP2 (I664T +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2981362	NM_006267.5(RANBP2):c.1699A>G (p.Lys567Glu)	RANBP2 (K566E +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2954650	NM_006267.5(RANBP2):c.1769A>G (p.Asn590Ser)	RANBP2 (N590S +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2911328	NM_006267.5(RANBP2):c.1713A>G (p.Gln571=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2904321	NM_006267.5(RANBP2):c.1641C>T (p.Asn547=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2898925	NM_006267.5(RANBP2):c.1834T>C (p.Leu612=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2894636	NM_006267.5(RANBP2):c.1918G>A (p.Ala640Thr)	RANBP2 (A639T +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2880913	NM_006267.5(RANBP2):c.1882C>T (p.Pro628Ser)	RANBP2 (P628S +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2876452	NM_006267.5(RANBP2):c.1918-7T>C	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2865493	NM_006267.5(RANBP2):c.1938T>C (p.Tyr646=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2864925	NM_006267.5(RANBP2):c.2004G>C (p.Val668=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2863276	NM_006267.5(RANBP2):c.1755+10A>G	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2863051	NM_006267.5(RANBP2):c.2055+8G>A	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2824991	NM_006267.5(RANBP2):c.1717G>C (p.Ala573Pro)	RANBP2 (A573P +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2822590	NM_006267.5(RANBP2):c.1882C>A (p.Pro628Thr)	RANBP2 (P627T +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2820715	NM_006267.5(RANBP2):c.1964C>G (p.Ala655Gly)	RANBP2 (A654G +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2816010	NM_006267.5(RANBP2):c.1917+6A>G	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2791317	NM_006267.5(RANBP2):c.1851_1853del (p.Lys619del)	RANBP2 (K618del +1 more)	Deletion (inframe_deletion)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2772225	NM_006267.5(RANBP2):c.1832C>T (p.Pro611Leu)	RANBP2 (P610L +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2772192	NM_006267.5(RANBP2):c.1656A>G (p.Arg552=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2769050	NM_006267.5(RANBP2):c.1937A>G (p.Tyr646Cys)	RANBP2 (Y646C +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2744313	NM_006267.5(RANBP2):c.1917+15T>A	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2742290	NM_006267.5(RANBP2):c.1985G>A (p.Gly662Glu)	RANBP2 (G662E +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2730976	NM_006267.5(RANBP2):c.1700A>G (p.Lys567Arg)	RANBP2 (K567R +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2718145	NM_006267.5(RANBP2):c.2008G>A (p.Ala670Thr)	RANBP2 (A669T +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2714887	NM_006267.5(RANBP2):c.1908A>G (p.Val636=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2672170	NM_006267.5(RANBP2):c.4105del (p.Ala1369fs)	RANBP2 (A1368fs +1 more)	Deletion (frameshift variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2431462	NM_006267.5(RANBP2):c.519G>T (p.Glu173Asp)	RANBP2 (E172D +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2428423	NM_006267.5(RANBP2):c.2018C>G (p.Ser673Cys)	RANBP2 (S672C +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2426740	NC_000002.11:g.(?_108604612)_(109579739_?)del	CCDC138, EDAR +7 more	Deletion	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2425553	NC_000002.11:g.(?_109368307)_(109579739_?)dup	CCDC138, EDAR +1 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2425552	NC_000002.11:g.(?_108604612)_(109579739_?)dup	CCDC138, EDAR +7 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2425551	NC_000002.11:g.(?_109368307)_(109370039_?)del	RANBP2	Deletion	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2425550	NC_000002.11:g.(?_109368307)_(109370039_?)dup	RANBP2	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2425549	NC_000002.11:g.(?_109363157)_(109363264_?)dup	RANBP2	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2282483	NM_006267.5(RANBP2):c.1967T>C (p.Ile656Thr)	RANBP2 (I655T +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy +1 more	GUncertain significance
Select item 2200125	NM_006267.5(RANBP2):c.4086A>T (p.Ser1362=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2197170	NM_006267.5(RANBP2):c.8020+10T>C	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2190974	NM_006267.5(RANBP2):c.1877T>C (p.Ile626Thr)	RANBP2 (I626T)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2182533	NM_006267.5(RANBP2):c.1717G>A (p.Ala573Thr)	RANBP2 (A573T)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2167155	NM_006267.5(RANBP2):c.1918-13T>C	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2165670	NM_006267.5(RANBP2):c.1761C>A (p.Ser587Arg)	RANBP2 (S587R)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2153201	NM_006267.5(RANBP2):c.2020A>T (p.Ile674Leu)	RANBP2 (I674L)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2152077	NM_006267.5(RANBP2):c.1756-15A>C	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2151347	NM_006267.5(RANBP2):c.1918-7del	RANBP2	Deletion (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2148107	NM_006267.5(RANBP2):c.1968A>G (p.Ile656Met)	RANBP2 (I656M)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2143601	NM_006267.5(RANBP2):c.1952A>G (p.His651Arg)	RANBP2 (H651R)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2142980	NM_006267.5(RANBP2):c.2016A>G (p.Glu672=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2139949	NM_006267.5(RANBP2):c.1755+17A>T	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2130069	NM_006267.5(RANBP2):c.1798G>C (p.Gly600Arg)	RANBP2 (G600R +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2110396	NM_006267.5(RANBP2):c.1843A>T (p.Ile615Leu)	RANBP2 (I614L +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2095334	NM_006267.5(RANBP2):c.1755+8T>G	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2075601	NM_006267.5(RANBP2):c.1877T>A (p.Ile626Asn)	RANBP2 (I626N +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2068134	NM_006267.5(RANBP2):c.7669A>G (p.Asn2557Asp)	RANBP2 (N2556D +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GBenign
Select item 2057625	NM_006267.5(RANBP2):c.7303A>G (p.Ile2435Val)	RANBP2 (I2435V +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2055557	NM_006267.5(RANBP2):c.1684C>T (p.Leu562=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2053511	NM_006267.5(RANBP2):c.1989T>C (p.Asn663=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2050789	NM_006267.5(RANBP2):c.2340G>T (p.Pro780=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GBenign
Select item 2050696	NM_006267.5(RANBP2):c.1918-16dup	RANBP2	Duplication (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2044272	NM_006267.5(RANBP2):c.1756-3del	RANBP2	Deletion (intron variant)	Familial acute necrotizing encephalopathy	GBenign
Select item 2029412	NM_006267.5(RANBP2):c.1980A>C (p.Val660=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 2023677	NM_006267.5(RANBP2):c.1677A>G (p.Ile559Met)	RANBP2 (I558M +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2018785	NM_006267.5(RANBP2):c.1755G>A (p.Thr585=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1992489	NM_006267.5(RANBP2):c.1794C>T (p.Tyr598=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1988445	NM_006267.5(RANBP2):c.1904G>C (p.Ser635Thr)	RANBP2 (S635T +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy +1 more	GUncertain significance
Select item 1954612	NM_006267.5(RANBP2):c.1755+12dup	RANBP2	Duplication (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1950703	NM_006267.5(RANBP2):c.1633C>T (p.Pro545Ser)	RANBP2 (P544S +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1937089	NM_006267.5(RANBP2):c.1757G>A (p.Gly586Asp)	RANBP2 (G586D +1 more)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1927376	NM_006267.5(RANBP2):c.1756-7T>G	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1805992	NM_006267.5(RANBP2):c.3766C>G (p.Pro1256Ala)	RANBP2 (P1256A)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1721305	NM_006267.5(RANBP2):c.1661T>C (p.Leu554Pro)	RANBP2 (L554P)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1718243	NM_006267.5(RANBP2):c.1873C>T (p.Pro625Ser)	RANBP2 (P625S)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1716185	NM_006267.5(RANBP2):c.1690G>A (p.Ala564Thr)	RANBP2 (A564T)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1683640	NM_006267.5(RANBP2):c.7036G>C (p.Val2346Leu)	RANBP2 (V2346L)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1668295	NM_006267.5(RANBP2):c.2055+7A>G	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1663630	NM_006267.5(RANBP2):c.615G>A (p.Ser205=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1661495	NM_006267.5(RANBP2):c.1752A>G (p.Lys584=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1660035	NM_006267.5(RANBP2):c.2202+17T>C	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1657845	NM_006267.5(RANBP2):c.7881C>G (p.Pro2627=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1657609	NM_006267.5(RANBP2):c.2467-5A>C	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1657598	NM_006267.5(RANBP2):c.5934A>G (p.Leu1978=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1657430	NM_006267.5(RANBP2):c.8114-10G>C	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1655364	NM_006267.5(RANBP2):c.1881T>C (p.Asp627=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1651812	NM_006267.5(RANBP2):c.4929A>C (p.Ser1643=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1649021	NM_006267.5(RANBP2):c.8600-6C>T	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1639887	NM_006267.5(RANBP2):c.2383-13T>C	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1639706	NM_006267.5(RANBP2):c.7755C>T (p.Ile2585=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1638708	NM_006267.5(RANBP2):c.1425A>G (p.Ala475=)	RANBP2	Single nucleotide variant (synonymous variant)	Familial acute necrotizing encephalopathy +1 more	GLikely benign
Select item 1634970	NM_006267.5(RANBP2):c.1632-9A>G	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1631097	NM_006267.5(RANBP2):c.1755+12A>T	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign
Select item 1630629	NM_006267.5(RANBP2):c.1632-9A>T	RANBP2	Single nucleotide variant (intron variant)	Familial acute necrotizing encephalopathy	GLikely benign

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