ClinVar for MedGen (Select 1657090) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064038	NM_000430.4(PAFAH1B1):c.329dup (p.Val111fs)	PAFAH1B1 (V111fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	Gnot provided
Select item 2627404	NM_000430.4(PAFAH1B1):c.707G>A (p.Trp236Ter)	PAFAH1B1 (W236*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 2504116	NC_000017.11:g.2665367T>C	PAFAH1B1	Single nucleotide variant	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 2502363	NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)	PAFAH1B1 (G49fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 2434567	NM_000430.4(PAFAH1B1):c.117+3A>G	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 2434566	NM_000430.4(PAFAH1B1):c.362G>A (p.Ser121Asn)	PAFAH1B1 (S121N)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 1803050	NM_000430.4(PAFAH1B1):c.485G>A (p.Gly162Asp)	PAFAH1B1 (G162D)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 1801334	NM_000430.4(PAFAH1B1):c.748G>A (p.Ala250Thr)	PAFAH1B1 (A250T)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 1697351	NM_000430.4(PAFAH1B1):c.425T>C (p.Phe142Ser)	PAFAH1B1 (F142S)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 1696672	NM_000430.4(PAFAH1B1):c.-190-8934C>G	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 1685391	NM_000430.4(PAFAH1B1):c.568+2T>C	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 1526061	NM_000430.4(PAFAH1B1):c.400-1G>A	PAFAH1B1	Single nucleotide variant (splice acceptor variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 1484487	NM_000430.4(PAFAH1B1):c.755G>C (p.Cys252Ser)	PAFAH1B1 (C252S)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation +1 more	GUncertain significance
Select item 1458748	NM_000430.4(PAFAH1B1):c.1009_1022del (p.His337fs)	PAFAH1B1 (H337fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1356339	NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser)	PAFAH1B1 (N203S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1334701	NM_000430.4(PAFAH1B1):c.1083_1084dup (p.Leu362fs)	PAFAH1B1 (L362fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation +1 more	GPathogenic/Likely pathogenic
Select item 1174504	NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln)	TUBA1A (R121Q +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation +2 more	GConflicting classifications of pathogenicity
Select item 1164013	NM_000430.4(PAFAH1B1):c.1136A>G (p.His379Arg)	PAFAH1B1 (H379R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 1162266	NM_000430.4(PAFAH1B1):c.681dup (p.Lys228fs)	PAFAH1B1 (K228fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 982585	NM_000430.4(PAFAH1B1):c.140A>G (p.Tyr47Cys)	PAFAH1B1 (Y47C)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 982584	NM_000430.4(PAFAH1B1):c.1087C>T (p.Arg363Cys)	PAFAH1B1 (R363C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931583	NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)	PAFAH1B1 (H381R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 931348	NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met)	PAFAH1B1 (V221M)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation +1 more	GConflicting classifications of pathogenicity
Select item 930294	NM_000430.4(PAFAH1B1):c.569-9G>A	PAFAH1B1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 812182	NM_000430.4(PAFAH1B1):c.967T>A (p.Trp323Arg)	PAFAH1B1 (W323R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 561072	NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter)	PAFAH1B1 (W284*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 559651	NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs)	PAFAH1B1 (R60fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 545514	NM_000430.4(PAFAH1B1):c.118-11_118-7del	PAFAH1B1	Deletion (intron variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 495279	NC_000017.11:g.(?_2638238)_(2638345_?)del	PAFAH1B1	Deletion	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 495278	NC_000017.11:g.(?_2680139)_(2681852_?)del	PAFAH1B1	Deletion	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 436141	NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp)	PAFAH1B1 (E300D)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 436140	NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly)	PAFAH1B1 (E300G)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 436137	NM_000430.4(PAFAH1B1):c.568+1G>A	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 436136	NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs)	PAFAH1B1 (M172fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 429277	NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile)	PAFAH1B1 (T397I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 379162	NM_000430.4(PAFAH1B1):c.1159+1G>A	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation +1 more	GPathogenic
Select item 280047	NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter)	PAFAH1B1 (R113*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 211836	NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs)	PAFAH1B1 (L312fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211835	NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs)	PAFAH1B1 (S304fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211834	NM_000430.4(PAFAH1B1):c.829dup (p.His277fs)	PAFAH1B1 (H277fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211833	NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs)	PAFAH1B1 (V258fs)	Microsatellite (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211832	NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs)	PAFAH1B1 (T257fs)	Indel (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211831	NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs)	PAFAH1B1 (D245fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211830	NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs)	PAFAH1B1 (E25fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211829	NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)	PAFAH1B1 (E235fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 211828	NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs)	PAFAH1B1 (T223fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211827	NM_000430.4(PAFAH1B1):c.569-3del	PAFAH1B1	Deletion (intron variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 211826	NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs)	PAFAH1B1 (Q180fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211825	NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs)	PAFAH1B1 (G148fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 211823	NM_000430.4(PAFAH1B1):c.347dup (p.His117fs)	PAFAH1B1 (H117fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211821	NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs)	PAFAH1B1 (R97fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211820	NM_000430.4(PAFAH1B1):c.190_192+5dup	PAFAH1B1	Duplication (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 211818	NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)	PAFAH1B1 (W340fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 211817	NM_000430.4(PAFAH1B1):c.1003-30_1032del	PAFAH1B1	Deletion (splice acceptor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 209180	NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter)	PAFAH1B1 (K175*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 202172	NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln)	PAFAH1B1 (R273Q)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159553	NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg)	PAFAH1B1 (M322R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159552	NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe)	PAFAH1B1 (S313F)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159551	NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs)	PAFAH1B1 (S304fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159550	NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159549	NM_000430.4(PAFAH1B1):c.900+1G>A	PAFAH1B1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 159548	NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter)	PAFAH1B1 (W284*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159547	NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter)	PAFAH1B1 (Y28*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159546	NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg)	PAFAH1B1 (C281R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159545	NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg)	PAFAH1B1 (S251R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159544	NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter)	PAFAH1B1 (Q244*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159543	NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter)	PAFAH1B1 (Y24*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159542	NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs)	PAFAH1B1 (M239fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159540	NM_000430.4(PAFAH1B1):c.687A>T (p.Thr229=)	PAFAH1B1	Single nucleotide variant (synonymous variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 159539	NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter)	PAFAH1B1 (Y225*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159538	NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp)	PAFAH1B1 (G224D)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159537	NM_000430.4(PAFAH1B1):c.671+5G>A	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159536	NM_000430.4(PAFAH1B1):c.671+4A>G	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159535	NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter)	PAFAH1B1 (Q222*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159534	NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs)	PAFAH1B1 (E220fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159533	NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter)	PAFAH1B1 (W219*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159532	NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs)	PAFAH1B1 (I216fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 159531	NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs)	PAFAH1B1 (T215fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159530	NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter)	PAFAH1B1 (S211*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159529	NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg)	PAFAH1B1 (L19R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159528	NM_000430.4(PAFAH1B1):c.568+27C>T	PAFAH1B1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 159527	NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs)	PAFAH1B1 (Q180fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159526	NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs)	PAFAH1B1 (K175fs)	Deletion (frameshift variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159525	NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr)	PAFAH1B1 (C168Y)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 159524	NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter)	PAFAH1B1 (Q154*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159523	NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs)	PAFAH1B1 (S152fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 159522	NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter)	PAFAH1B1 (R144*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159521	NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter)	PAFAH1B1 (W135*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159520	NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile)	PAFAH1B1 (M1I)	Single nucleotide variant (missense variant +1 more)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159519	NM_000430.4(PAFAH1B1):c.399+1G>A	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159517	NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val)	PAFAH1B1 (D129V)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159516	NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter)	PAFAH1B1 (R13*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159515	NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp)	PAFAH1B1 (V124D)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159514	NM_000430.4(PAFAH1B1):c.33-3C>T	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159513	NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter)	PAFAH1B1 (Y102*)	Duplication (nonsense)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159512	NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)	PAFAH1B1 (R89*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159511	NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn)	PAFAH1B1 (K64N)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159510	NM_000430.4(PAFAH1B1):c.192+1G>T	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159509	NM_000430.4(PAFAH1B1):c.192+1G>A	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic
Select item 159508	NM_000430.4(PAFAH1B1):c.192+15T>C	PAFAH1B1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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