ClinVar for MedGen (Select 307142) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065251	NM_003611.3(OFD1):c.614_617del (p.Arg205fs)	OFD1 (R205fs +1 more)	Microsatellite (frameshift variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 3064749	NM_003611.3(OFD1):c.2997-3T>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I	GUncertain significance
Select item 2953985	NM_003611.3(OFD1):c.1141C>A (p.His381Asn)	OFD1 (H241N +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2953775	NM_003611.3(OFD1):c.2811A>G (p.Glu937=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2953533	NM_003611.3(OFD1):c.843A>C (p.Glu281Asp)	OFD1 (E141D +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2952786	NM_003611.3(OFD1):c.2046T>G (p.Ile682Met)	OFD1 (I542M +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2952218	NM_003611.3(OFD1):c.198del (p.Ser67fs)	OFD1 (S67fs)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2952017	NM_003611.3(OFD1):c.2969C>G (p.Thr990Arg)	OFD1 (T990R +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2951721	NM_003611.3(OFD1):c.1129+20T>C	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951010	NM_003611.3(OFD1):c.2387+12G>A	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950974	NM_003611.3(OFD1):c.2655G>A (p.Gln885=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950180	NM_003611.3(OFD1):c.1543-10A>G	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2950177	NM_003611.3(OFD1):c.1033A>C (p.Lys345Gln)	OFD1 (K205Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2949754	NM_003611.3(OFD1):c.2600-6_2600-3dup	OFD1	Duplication (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949663	NM_003611.3(OFD1):c.304A>G (p.Lys102Glu)	OFD1 (K102E)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2949268	NM_003611.3(OFD1):c.382-10_382-6del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2949267	NM_003611.3(OFD1):c.389G>T (p.Gly130Val)	OFD1 (G130V)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2949225	NM_003611.3(OFD1):c.1655-4G>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2948548	NM_003611.3(OFD1):c.935+1G>C	OFD1	Single nucleotide variant (splice donor variant)	Orofaciodigital syndrome I +1 more	GLikely pathogenic
Select item 2947652	NM_003611.3(OFD1):c.1130-21A>T	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2947373	NM_003611.3(OFD1):c.655-6T>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2946744	NM_003611.3(OFD1):c.571A>G (p.Ile191Val)	OFD1 (I191V +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2946649	NM_003611.3(OFD1):c.822C>G (p.His274Gln)	OFD1 (H134Q +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2946640	NM_003611.3(OFD1):c.12+18T>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2946507	NM_003611.3(OFD1):c.2648G>A (p.Arg883Gln)	OFD1 (R843Q +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2946030	NM_003611.3(OFD1):c.2645T>C (p.Ile882Thr)	OFD1 (I742T +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2945700	NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter)	OFD1 (E503* +2 more)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome I +1 more	GPathogenic
Select item 2944692	NM_003611.3(OFD1):c.2348C>G (p.Ser783Cys)	OFD1 (S743C +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2944691	NM_003611.3(OFD1):c.495G>T (p.Ser165=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2944546	NM_003611.3(OFD1):c.2236C>T (p.Leu746Phe)	OFD1 (L706F +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2944496	NM_003611.3(OFD1):c.2689dup (p.Arg897fs)	OFD1 (R757fs +2 more)	Duplication (frameshift variant)	Orofaciodigital syndrome I +1 more	GPathogenic
Select item 2944190	NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)	OFD1 (S90A)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2943242	NM_003611.3(OFD1):c.296G>A (p.Gly99Asp)	OFD1 (G99D)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2942503	NM_003611.3(OFD1):c.1477A>G (p.Ile493Val)	OFD1 (I353V +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2942258	NM_003611.3(OFD1):c.1651_1654del (p.Thr551fs)	OFD1 (T511fs +2 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2942247	NM_003611.3(OFD1):c.308_312del (p.Glu103fs)	OFD1 (E103fs)	Microsatellite (frameshift variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2942200	NM_003611.3(OFD1):c.145A>T (p.Met49Leu)	OFD1 (M49L)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2941603	NM_003611.3(OFD1):c.1291G>T (p.Val431Phe)	OFD1 (V291F +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2941480	NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter)	OFD1 (E332* +2 more)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome I +1 more	GPathogenic
Select item 2941177	NM_003611.3(OFD1):c.1318C>T (p.Leu440=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2941165	NM_003611.3(OFD1):c.1397T>C (p.Leu466Pro)	OFD1 (L426P +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2941019	NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp)	OFD1 (C441W +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2940881	NM_003611.3(OFD1):c.2908G>A (p.Asp970Asn)	OFD1 (D930N +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2940603	NM_003611.3(OFD1):c.2502G>A (p.Met834Ile)	OFD1 (M794I +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2940423	NM_003611.3(OFD1):c.2599+5del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2940321	NM_003611.3(OFD1):c.313-16C>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2939374	NM_003611.3(OFD1):c.34G>T (p.Asp12Tyr)	LOC126863212, OFD1 (D12Y)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2939291	NM_003611.3(OFD1):c.1859C>A (p.Ser620Tyr)	OFD1 (S620Y +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2939270	NM_003611.3(OFD1):c.1196C>G (p.Ser399Cys)	OFD1 (S399C +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2938846	NM_003611.3(OFD1):c.2238C>T (p.Leu746=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2938191	NM_003611.3(OFD1):c.2757+17G>C	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2938075	NM_003611.3(OFD1):c.2171G>A (p.Arg724Lys)	OFD1 (R684K +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2937537	NM_003611.3(OFD1):c.4A>G (p.Met2Val)	LOC126863212, OFD1 (M2V)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2937419	NM_003611.3(OFD1):c.962A>G (p.His321Arg)	OFD1 (H181R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2937328	NM_003611.3(OFD1):c.148C>T (p.His50Tyr)	OFD1 (H50Y)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2937219	NM_003611.3(OFD1):c.1544T>G (p.Ile515Ser)	OFD1 (I375S +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2935807	NM_003611.3(OFD1):c.894A>C (p.Gly298=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2935774	NM_003611.3(OFD1):c.2542G>A (p.Asp848Asn)	OFD1 (D808N +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2935770	NM_003611.3(OFD1):c.7G>T (p.Ala3Ser)	LOC126863212, OFD1 (A3S)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2935284	NM_003611.3(OFD1):c.1129+11G>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2934870	NM_003611.3(OFD1):c.2893A>C (p.Ile965Leu)	OFD1 (I965L +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2934798	NM_003611.3(OFD1):c.1395C>G (p.Asn465Lys)	OFD1 (N425K +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2934633	NM_003611.3(OFD1):c.2396G>A (p.Arg799Gln)	OFD1 (R759Q +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2934488	NM_003611.3(OFD1):c.1356A>G (p.Lys452=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2934459	NM_003611.3(OFD1):c.178C>A (p.Arg60=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2933788	NM_003611.3(OFD1):c.2880A>G (p.Lys960=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2933629	NM_003611.3(OFD1):c.762A>C (p.Gln254His)	OFD1 (Q114H +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2933554	NM_003611.3(OFD1):c.111+6G>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2933310	NM_003611.3(OFD1):c.1411+8T>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2933268	NM_003611.3(OFD1):c.2599+8C>T	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2933168	NM_003611.3(OFD1):c.2929-13T>C	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2932459	NM_003611.3(OFD1):c.216C>T (p.Gly72=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2932017	NM_003611.3(OFD1):c.2182G>A (p.Gly728Ser)	OFD1 (G688S +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2931056	NM_003611.3(OFD1):c.2600-5_2600del	OFD1	Deletion (splice acceptor variant)	Orofaciodigital syndrome I +1 more	GLikely pathogenic
Select item 2931055	NM_003611.3(OFD1):c.2600-9T>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2931054	NM_003611.3(OFD1):c.2600-17_2600-9del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2930904	NM_003611.3(OFD1):c.518-17dup	OFD1	Duplication (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2930846	NM_003611.3(OFD1):c.142T>C (p.Leu48=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2930777	NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)	OFD1 (S171Y +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2930534	NM_003611.3(OFD1):c.2923G>C (p.Asp975His)	OFD1 (D835H +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2930162	NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)	OFD1 (T120A)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2930104	NM_003611.3(OFD1):c.2708A>G (p.Glu903Gly)	OFD1 (E763G +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2930026	NM_003611.3(OFD1):c.1129+10G>C	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2929902	NM_003611.3(OFD1):c.1416A>G (p.Leu472=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2929425	NM_003611.3(OFD1):c.396T>A (p.Asp132Glu)	OFD1 (D132E)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GBenign
Select item 2929246	NM_003611.3(OFD1):c.1655-9A>T	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2929108	NM_003611.3(OFD1):c.381+20G>A	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2929034	NM_003611.3(OFD1):c.2450C>T (p.Ala817Val)	OFD1 (A777V +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2928447	NM_003611.3(OFD1):c.1800A>G (p.Leu600=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2928400	NM_003611.3(OFD1):c.1459C>T (p.Arg487Trp)	OFD1 (R487W +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2928338	NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)	OFD1 (N257S +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2928309	NM_003611.3(OFD1):c.135T>G (p.Ile45Met)	OFD1 (I45M)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2927854	NM_003611.3(OFD1):c.3006C>G (p.Gly1002=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2927343	NM_003611.3(OFD1):c.16A>G (p.Asn6Asp)	LOC126863212, OFD1 (N6D)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2926953	NM_003611.3(OFD1):c.1467C>T (p.Ala489=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2926333	NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)	OFD1 (G714D +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2926208	NM_003611.3(OFD1):c.1574T>A (p.Ile525Asn)	OFD1 (I385N +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2926106	NM_003611.3(OFD1):c.505A>G (p.Arg169Gly)	OFD1 (R169G +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2925839	NM_003611.3(OFD1):c.2178C>T (p.Arg726=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2925657	NM_003611.3(OFD1):c.1066G>C (p.Glu356Gln)	OFD1 (E216Q +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance

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