"GeneDx"[submitter] AND "MCPH1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 152804	GRCh38/hg38 8p23.1(chr8:6303909-6412405)x3	LOC126860289, LOC126860290 +5 more	Copy number gain	See cases	GUncertain significance
Select item 58958	GRCh38/hg38 8p23.1(chr8:6391161-6451673)x1	LOC123987612, LOC126860290 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1277726	NC_000008.11:g.6406286T>C	MCPH1-DT, MCPH1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1275193	NC_000008.11:g.6406295G>C	MCPH1-DT, MCPH1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1202967	NC_000008.11:g.6406319C>G	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1212188	NC_000008.11:g.6406364C>G	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1243287	NC_000008.11:g.6406391A>T	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1247321	NC_000008.11:g.6406418C>T	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1245106	NC_000008.11:g.6406426C>G	MCPH1, MCPH1-DT +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1238897	NC_000008.11:g.6406432G>C	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1192013	NC_000008.11:g.6406494C>T	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1219030	NC_000008.11:g.6406495G>C	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1208879	NC_000008.11:g.6406517T>G	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1179530	NC_000008.11:g.6406522C>T	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1247952	NC_000008.11:g.6406552G>T	MCPH1	Single nucleotide variant	not provided	GBenign
Select item 1209160	NC_000008.11:g.6406587C>T	MCPH1	Single nucleotide variant	not provided	GLikely benign
Select item 363515	NM_024596.4(MCPH1):c.-59G>C	MCPH1	Single nucleotide variant	not provided +1 more	GBenign
Select item 1180214	NM_024596.5(MCPH1):c.22+55C>G	LOC129999780, MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215827	NM_024596.5(MCPH1):c.23-233G>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231559	NM_024596.5(MCPH1):c.23-159C>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295207	NM_024596.5(MCPH1):c.23-107C>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158854	NM_024596.5(MCPH1):c.23-26G>A	MCPH1	Single nucleotide variant (intron variant)	Microcephaly 1, primary, autosomal recessive +1 more	GBenign
Select item 158853	NM_024596.5(MCPH1):c.23-15A>G	MCPH1	Single nucleotide variant (intron variant)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 1236595	NM_024596.5(MCPH1):c.114+66A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198613	NM_024596.5(MCPH1):c.114+187T>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236718	NM_024596.5(MCPH1):c.115-148T>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673332	NM_024596.5(MCPH1):c.115-130G>A	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670445	NM_024596.5(MCPH1):c.115-101G>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206521	NM_024596.5(MCPH1):c.115-56A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 363518	NM_024596.5(MCPH1):c.115-14C>T	MCPH1	Single nucleotide variant (intron variant)	Microcephaly 1, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 373585	NM_024596.5(MCPH1):c.145C>G (p.His49Asp)	MCPH1 (H49D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1305462	NM_024596.5(MCPH1):c.146A>G (p.His49Arg)	MCPH1 (H15R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451584	NM_024596.5(MCPH1):c.149_151delinsGTG (p.Val50_Ile51delinsGlyVal)	MCPH1	Indel (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1302481	NM_024596.5(MCPH1):c.217G>C (p.Val73Leu)	MCPH1 (V39L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 158851	NM_024596.5(MCPH1):c.228G>T (p.Val76=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1228495	NM_024596.5(MCPH1):c.233+53T>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670446	NM_024596.5(MCPH1):c.233+73A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670447	NM_024596.5(MCPH1):c.233+77C>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683148	NM_024596.5(MCPH1):c.233+128T>A	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683149	NM_024596.5(MCPH1):c.233+137del	MCPH1	Deletion (intron variant)	not provided	GBenign
Select item 683150	NM_024596.5(MCPH1):c.233+139A>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197795	NM_024596.5(MCPH1):c.233+289A>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673930	NM_024596.5(MCPH1):c.234-141A>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252645	NM_024596.5(MCPH1):c.236G>T (p.Cys79Phe)	MCPH1 (C45F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 167281	NM_024596.5(MCPH1):c.297C>T (p.His99=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 158868	NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr)	MCPH1 (S102T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 523934	NM_024596.5(MCPH1):c.321dup (p.Arg108fs)	MCPH1 (R106fs +2 more)	Duplication (frameshift variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GPathogenic
Select item 489240	NM_024596.5(MCPH1):c.313A>T (p.Lys105Ter)	MCPH1 (K105* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1199940	NM_024596.5(MCPH1):c.321+47C>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221762	NM_024596.5(MCPH1):c.321+163A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189102	NM_024596.5(MCPH1):c.321+215C>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199981	NM_024596.5(MCPH1):c.322-291G>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235899	NM_024596.5(MCPH1):c.322-232T>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1800940	NM_024596.5(MCPH1):c.322-2A>T	MCPH1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 167285	NM_024596.5(MCPH1):c.433C>T (p.Leu145=)	MCPH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1328616	NM_024596.5(MCPH1):c.436+46A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298202	NM_024596.5(MCPH1):c.436+105A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259212	NM_024596.5(MCPH1):c.436+183C>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234890	NM_024596.5(MCPH1):c.436+326A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178113	NM_024596.5(MCPH1):c.437-129G>A	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158870	NM_024596.5(MCPH1):c.477A>T (p.Ser159=)	MCPH1	Single nucleotide variant (synonymous variant +2 more)	Microcephaly 1, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 138184	NM_024596.5(MCPH1):c.513= (p.Arg171=)	MCPH1	Single nucleotide variant (no sequence alteration +2 more)	not provided +1 more	GBenign
Select item 30639	NM_024596.5(MCPH1):c.566dup (p.Asn189fs)	MCPH1 (N187fs +2 more)	Duplication (frameshift variant +2 more)	Microcephaly 1, primary, autosomal recessive +1 more	GPathogenic
Select item 1216274	NM_024596.5(MCPH1):c.580+276dup	MCPH1	Duplication (intron variant)	not provided	GLikely benign
Select item 1261966	NM_024596.5(MCPH1):c.580+285dup	MCPH1	Duplication (intron variant)	not provided	GBenign
Select item 1197322	NM_024596.5(MCPH1):c.580+284_580+285dup	MCPH1	Duplication (intron variant)	not provided	GLikely benign
Select item 1279789	NM_024596.5(MCPH1):c.580+277A>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673931	NM_024596.5(MCPH1):c.581-56A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326412	NM_024596.5(MCPH1):c.581-29C>A	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158872	NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)	MCPH1 (A212T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 211448	NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)	MCPH1 (C222R +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 672584	NM_024596.5(MCPH1):c.670+203dup	MCPH1	Duplication (intron variant)	not provided	GBenign
Select item 1212500	NM_024596.5(MCPH1):c.671-176T>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189611	NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly)	MCPH1 (D176G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 211449	NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)	MCPH1 (D261E +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 158875	NM_024596.5(MCPH1):c.790A>G (p.Ile264Val)	MCPH1 (I264V +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 1312900	NM_024596.5(MCPH1):c.797C>T (p.Ser266Leu)	MCPH1 (S218L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895329	NM_024596.5(MCPH1):c.843_846del (p.His282fs)	MCPH1 (H280fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 596570	NM_024596.5(MCPH1):c.859A>C (p.Ser287Arg)	MCPH1 (S287R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 158876	NM_024596.5(MCPH1):c.863C>A (p.Pro288His)	MCPH1 (P288H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 158877	NM_024596.5(MCPH1):c.867G>A (p.Gln289=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158879	NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile)	MCPH1 (R304I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 21705	NM_024596.5(MCPH1):c.940G>C (p.Asp314His)	MCPH1 (D314H +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 287122	NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys)	MCPH1 (Y330C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 3368055	NM_024596.5(MCPH1):c.1037A>G (p.His346Arg)	MCPH1 (H298R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 912054	NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile)	MCPH1 (S351I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 96126	NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)	MCPH1 (D392G +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 909149	NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val)	MCPH1 (E361V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 96127	NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 449218	NM_024596.5(MCPH1):c.1244A>C (p.Tyr415Ser)	MCPH1 (Y415S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 158818	NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)	MCPH1 (Y425N +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 158820	NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys)	MCPH1 (E451K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 198908	NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys)	MCPH1 (E457K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1305237	NM_024596.5(MCPH1):c.1370A>G (p.Glu457Gly)	MCPH1 (E409G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450610	NM_024596.5(MCPH1):c.1408A>G (p.Thr470Ala)	MCPH1 (T470A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 96128	NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 96129	NM_024596.5(MCPH1):c.1495G>A (p.Val499Met)	MCPH1 (V499M +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 2429702	NM_024596.5(MCPH1):c.1558C>G (p.Pro520Ala)	MCPH1 (P472A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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