ClinVar for MedGen (Select 78604) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238744	NM_178140.4(PDZD2):c.2000T>G (p.Leu667Ter)	PDZD2 (L667*)	Single nucleotide variant (nonsense)	Lissencephaly	GUncertain significance
Select item 1320300	NM_001042475.3(CEP85L):c.3G>T (p.Met1Ile)	CEP85L, LOC129997071 (M1I)	Single nucleotide variant (missense variant +2 more)	Lissencephaly	GPathogenic
Select item 1320024	NM_006009.4(TUBA1A):c.806T>C (p.Leu269Pro)	TUBA1A (L234P +1 more)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 1120042	NM_001042475.3(CEP85L):c.189T>G (p.Ser63Arg)	CEP85L (S63R +1 more)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 1077140	NM_001042475.3(CEP85L):c.232+2T>A	CEP85L	Single nucleotide variant (splice donor variant)	Lissencephaly +1 more	GPathogenic
Select item 1077133	NM_005249.5(FOXG1):c.686_687delinsAA (p.Ile229Lys)	FOXG1 (I229K)	Indel (missense variant)	Lissencephaly	GLikely pathogenic
Select item 997077	GRCh37/hg19 Xp22.33(chrX:61091-787353)		Copy number loss	Lissencephaly +3 more	GPathogenic
Select item 996711	NM_005045.4(RELN):c.6613_6614del (p.Phe2205fs)	RELN (F2205fs)	Deletion (frameshift variant)	Lissencephaly	GLikely pathogenic
Select item 996663	NM_005045.4(RELN):c.1249C>T (p.Gln417Ter)	RELN (Q417*)	Single nucleotide variant (nonsense)	Lissencephaly	GLikely pathogenic
Select item 996662	NM_001070.5(TUBG1):c.769A>T (p.Ile257Phe)	TUBG1 (I257F)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 996661	NM_006086.4(TUBB3):c.1163T>C (p.Met388Thr)	TUBB3 (M316T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 996660	NM_178012.5(TUBB2B):c.73A>G (p.Ser25Gly)	TUBB2B (S25G)	Single nucleotide variant (missense variant)	Lissencephaly	GUncertain significance
Select item 996659	NM_178012.5(TUBB2B):c.298A>T (p.Asn100Tyr)	TUBB2B (N100Y)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 996658	NM_178012.5(TUBB2B):c.747C>A (p.Asp249Glu)	TUBB2B (D249E)	Single nucleotide variant (missense variant)	Lissencephaly	GUncertain significance
Select item 996630	NM_005045.4(RELN):c.6325C>T (p.Gln2109Ter)	RELN (Q2109*)	Single nucleotide variant (nonsense)	Lissencephaly	GLikely pathogenic
Select item 996629	NM_005045.4(RELN):c.3205del (p.Ile1069fs)	RELN (I1069fs)	Deletion (frameshift variant)	Lissencephaly	GLikely pathogenic
Select item 996625	NM_000430.3:c.(?_-30)_(*220_?)del	PAFAH1B1	Deletion	Lissencephaly	GLikely pathogenic
Select item 996624	NM_000430.3:c.(568+1_569-1)_(671+1_672-1)del	PAFAH1B1	Deletion	Lissencephaly	GLikely pathogenic
Select item 996623	NM_000430.3:c.(32+1_33-1)_(399+1_400-1)del	PAFAH1B1	Deletion	Lissencephaly	GLikely pathogenic
Select item 996622	NM_000430.4(PAFAH1B1):c.1044dup (p.Gly349fs)	PAFAH1B1 (G349fs)	Duplication (frameshift variant)	Lissencephaly	GLikely pathogenic
Select item 996621	NM_000430.4(PAFAH1B1):c.743T>C (p.Leu248Pro)	PAFAH1B1 (L248P)	Single nucleotide variant (missense variant)	Lissencephaly	GUncertain significance
Select item 996620	NM_000430.4(PAFAH1B1):c.721del (p.Arg241fs)	PAFAH1B1 (R241fs)	Deletion (frameshift variant)	Lissencephaly	GLikely pathogenic
Select item 996619	NM_000430.4(PAFAH1B1):c.680_681del (p.Val227fs)	PAFAH1B1 (V227fs)	Microsatellite (frameshift variant)	Lissencephaly	GLikely pathogenic
Select item 996618	NM_000430.4(PAFAH1B1):c.655T>G (p.Trp219Gly)	PAFAH1B1 (W219G)	Single nucleotide variant (missense variant)	Lissencephaly	GUncertain significance
Select item 996617	NM_000430.4(PAFAH1B1):c.154dup (p.Glu52fs)	PAFAH1B1 (E52fs)	Duplication (frameshift variant)	Lissencephaly	GLikely pathogenic
Select item 996616	NM_000430.4(PAFAH1B1):c.19C>T (p.Gln7Ter)	PAFAH1B1 (Q7*)	Single nucleotide variant (nonsense)	Lissencephaly	GLikely pathogenic
Select item 996576	NM_001376.5(DYNC1H1):c.11311G>A (p.Glu3771Lys)	DYNC1H1 (E3771K)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 996575	NM_001376.5(DYNC1H1):c.10888G>A (p.Gly3630Ser)	DYNC1H1 (G3630S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 996574	NM_001376.5(DYNC1H1):c.10313G>A (p.Arg3438Gln)	DYNC1H1 (R3438Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 996573	NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)	DYNC1H1 (R3344W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GPathogenic/Likely pathogenic
Select item 996572	NM_001376.5(DYNC1H1):c.9954G>T (p.Lys3318Asn)	DYNC1H1 (K3318N)	Single nucleotide variant (missense variant)	Lissencephaly	GUncertain significance
Select item 996571	NM_001376.5(DYNC1H1):c.7813_7815del (p.Leu2605del)	DYNC1H1 (L2605del)	Deletion (inframe_deletion)	Lissencephaly	GLikely pathogenic
Select item 996570	NM_001376.5(DYNC1H1):c.3161G>C (p.Trp1054Ser)	DYNC1H1 (W1054S)	Single nucleotide variant (missense variant)	Lissencephaly	GUncertain significance
Select item 996569	NM_001376.5(DYNC1H1):c.2321T>C (p.Leu774Pro)	DYNC1H1 (L774P)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 996568	NM_001376.5(DYNC1H1):c.2003T>A (p.Val668Asp)	DYNC1H1 (V668D)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 996566	NM_001376.5(DYNC1H1):c.915A>T (p.Lys305Asn)	DYNC1H1 (K305N)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 996565	NM_001195553.2(DCX):c.289C>G (p.Leu97Val)	DCX (L178V +1 more)	Single nucleotide variant (missense variant)	Lissencephaly	GLikely pathogenic
Select item 996564	NM_001614.5(ACTG1):c.535G>T (p.Asp179Tyr)	ACTG1 (D179Y)	Single nucleotide variant (missense variant +1 more)	Lissencephaly	GUncertain significance
Select item 659685	NM_001376.5(DYNC1H1):c.11941+2T>A	DYNC1H1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 643176	NM_018136.5(ASPM):c.9324del (p.Leu3109fs)	ASPM (L1524fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 586953	NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg)	MACF1 (G4706R +1 more)	Single nucleotide variant (missense variant)	Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 586948	NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe)	MACF1 (C5177F +1 more)	Single nucleotide variant (missense variant)	Lissencephaly	GPathogenic
Select item 560995	NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)	DYNC1H1 (R1603T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 523262	GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)	ASPA, OR3A1 +16 more	Copy number loss	Lissencephaly	GPathogenic
Select item 523261	GRCh37/hg19 17p13.3(chr17:2339561-2826073)	RAP1GAP2, CLUH +2 more	Copy number loss	Global developmental delay +6 more	GPathogenic
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	MIR212, MIR22 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 438602	NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe)	CEP85L (S64F +1 more)	Single nucleotide variant (missense variant)	Lissencephaly +1 more	GUncertain significance
Select item 438586	NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	TUBB (P287L +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6 +3 more	GConflicting classifications of pathogenicity
Select item 437135	NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu)	TUBG1 (S259L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 437125	NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)	TUBB2B (Q291K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 7	GLikely pathogenic
Select item 437119	NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del)	TUBA1A (E434del +1 more)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 424046	NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)	DYNC1H1 (R1623Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GPathogenic/Likely pathogenic
Select item 246393	NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp)	DYNC1H1 (R3474W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GPathogenic
Select item 210861	NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro)	DYNC1H1 (R3728P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 209108	NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro)	DYNC1H1 (R569P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GPathogenic/Likely pathogenic
Select item 209107	NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His)	DYNC1H1 (R309H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GPathogenic/Likely pathogenic
Select item 208490	NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)	TUBA1A (V409A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 197937	NM_005045.4(RELN):c.8489+4_8489+7del	SLC26A5-AS1, RELN	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 196901	NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)	RELN (L1734V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 183299	NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys)	MZT2B, TUBA3E (R215C)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GLikely pathogenic
Select item 160169	NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)	TUBA1A (I332T +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 160146	NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)	TUBA1A (R402C +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +3 more	GPathogenic/Likely pathogenic
Select item 159494	NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)	PAFAH1B1 (R371*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation +1 more	GPathogenic
Select item 158511	NM_001195553.2(DCX):c.907C>T (p.Arg303Ter)	DCX (R303* +1 more)	Single nucleotide variant (nonsense)	Ectopic tissue +2 more	GPathogenic
Select item 158443	NM_001195553.2(DCX):c.233G>T (p.Arg78Leu)	DCX (R78L +1 more)	Single nucleotide variant (missense variant)	Ectopic tissue +2 more	GPathogenic
Select item 88897	NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)	TUBB2B (E421K)	Single nucleotide variant (missense variant)	Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 55855	NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)	DYNC1H1 (R3344Q)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 31691	NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	EXOSC3 (G31A)	Single nucleotide variant (missense variant)	Paucity of anterior horn motor neurons +8 more	GPathogenic/Likely pathogenic
Select item 29590	NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)	ACTG1 (R256W)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2	GPathogenic
Select item 29589	NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)	ACTG1 (R254W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GPathogenic/Likely pathogenic
Select item 21182	NM_000430.4(PAFAH1B1):c.569-10T>C	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation +2 more	GPathogenic/Likely pathogenic
Select item 8081	NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)	PAFAH1B1 (R8*)	Single nucleotide variant (nonsense)	Lissencephaly due to LIS1 mutation +2 more	GPathogenic/Likely pathogenic
Select item 7077	NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)	TUBA1A (R422H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +2 more	GPathogenic
Select item 7071	NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)	TUBA1A (R402H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 7070	NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)	TUBA1A (R264C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +3 more	GPathogenic
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Aplastic anemia +7 more	GPathogenic
Select item 1819	NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)	CENPJ (S1081fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 77