ClinVar for MedGen (Select 324748) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6919291.	NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) GRCh37: Chr12:125455894 GRCh38: Chr12:124971348	DHX37	D382G	Neurodevelopmental disorders, Choreoathetosis, Cerebellar dysplasia, Neurodevelopmental delay, Abnormality of neuronal migration, Seizure, Coloboma of optic nerve, Polymicrogyria, Chorioretinal lacunae, Intellectual disability	Likely pathogenic (May 30, 2019)	no assertion criteria provided
Select item 6918622.	NM_006659.4(TUBGCP2):c.2025-2A>G GRCh37: Chr10:135097508 GRCh38: Chr10:133284004	TUBGCP2		Abnormality of neuronal migration, Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	Pathogenic (Nov 2, 2023)	no assertion criteria provided
Select item 6918613.	NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys) GRCh37: Chr10:135106678 GRCh38: Chr10:133293174	LOC126861106, TUBGCP2	R297C, R167C, R325C	not specified, not provided	Conflicting interpretations of pathogenicity (Mar 3, 2023)	criteria provided, conflicting interpretations
Select item 6918604.	NM_006659.4(TUBGCP2):c.1843G>C (p.Ala615Pro) GRCh37: Chr10:135099012 GRCh38: Chr10:133285508	TUBGCP2	A615P, A485P, A643P	Abnormality of neuronal migration, Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	Conflicting interpretations of pathogenicity (Nov 2, 2023)	no assertion criteria provided
Select item 6918595.	NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys) GRCh37: Chr10:135106570 GRCh38: Chr10:133293066	LOC126861106, TUBGCP2	R361C, R203C, R333C	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, not provided	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5990056.	NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) GRCh37: Chr2:166892659-166892660 GRCh38: Chr2:166036149-166036150	LOC102724058, SCN1A	S1110fs, S1099fs, S1081fs, S1082fs, S1098fs, S296fs	Polymicrogyria, Seizure, Death in childhood, Febrile seizure (within the age range of 3 months to 6 years), Abnormality of neuronal migration, Hypertelorism, Megalencephaly, autosomal dominant, Sudden death, Gliosis, Frontal bossing, HemimegalencephalySee cases, ...see more	Pathogenic (Dec 21, 2022)	criteria provided, single submitter
Select item 5869897.	NM_000702.4(ATP1A2):c.835del (p.Arg279fs) GRCh37: Chr1:160097428 GRCh38: Chr1:160127638	ATP1A2	R279fs	not provided	Pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 5622288.	NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) GRCh37: Chr1:160105074-160105075 GRCh38: Chr1:160135284-160135285	ATP1A2	C702fs	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, Abnormality of neuronal migration, Epilepsy, Arthrogryposis multiplex congenita, Hydrops fetalis	Pathogenic/Likely pathogenic (Nov 10, 2021)	no assertion criteria provided
Select item 5233909.	NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro) GRCh37: ChrX:133551320 GRCh38: ChrX:134417290	PHF6	R319P	Macrocephaly, Abnormality of neuronal migration, Enlarged cisterna magna, Hypoplasia of penis, Bilateral cryptorchidism, Rib fusion, Horseshoe kidney, Pulmonary arterial hypertension	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter
Select item 42474110.	NM_001447.2(FAT2):c.[2773T>C];[930T>G]			Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 42474011.	NM_032856.3(WDR73):c.[293T>C];[333delG]			Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 42473912.	NM_006514.3(SCN10A):c.[2530C>T];[597G>T]			Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 42473813.	NM_001083961.1(WDR62):c.[2515C>T];[3304C>T]			Abnormality of neuronal migration	Pathogenic (Oct 31, 2014)	no assertion criteria provided
Select item 42473714.	NM_015959.3(TMX2):c.[326A>G];[691C>T]			Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 42473615.	NM_005045.3(RELN):c.[2213G>A];[9427T>G]			Abnormality of neuronal migration	Pathogenic (Oct 31, 2014)	no assertion criteria provided
Select item 42473516.	NM_017890.4(VPS13B):c.[3582delT];[6370_6371delAT]			Abnormality of neuronal migration	Pathogenic (Oct 31, 2014)	no assertion criteria provided
Select item 42473417.	NM_133436.3(ASNS):c.[1439C>T];[1648C>T]			Abnormality of neuronal migration	Pathogenic (Oct 31, 2014)	no assertion criteria provided
Select item 21890418.	NM_003569.3(STX7):c.159A>C (p.Gln53His) GRCh37: Chr6:132793511 GRCh38: Chr6:132472372	STX7	Q53H	Abnormality of neuronal migration	Likely pathogenic (Oct 31, 2014)	no assertion criteria provided
Select item 20897519.	NM_138420.4(AHNAK2):c.2695G>T (p.Val899Leu) GRCh37: Chr14:105419093 GRCh38: Chr14:104952756	AHNAK2	V899L, V799L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20897420.	NM_138420.4(AHNAK2):c.5025G>C (p.Lys1675Asn) GRCh37: Chr14:105416763 GRCh38: Chr14:104950426	AHNAK2	K1675N, K1575N	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20897221.	NM_022444.4(SLC13A1):c.277A>C (p.Ile93Leu) GRCh37: Chr7:122811910 GRCh38: Chr7:123171856	SLC13A1	I93L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20897122.	NM_022444.4(SLC13A1):c.838A>G (p.Asn280Asp) GRCh37: Chr7:122774558 GRCh38: Chr7:123134504	SLC13A1	N280D, N156D	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20896923.	NM_052909.5(PLEKHG4B):c.3830G>A (p.Arg1277Gln) GRCh37: Chr5:171339 GRCh38: Chr5:171224	PLEKHG4B	R1277Q	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20896824.	NM_052909.5(PLEKHG4B):c.2635G>A (p.Glu879Lys) GRCh37: Chr5:162045 GRCh38: Chr5:161930	PLEKHG4B	E879K	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20896725.	NM_001141917.2(SPATA31F1):c.2452G>T (p.Val818Leu) GRCh37: Chr9:34724785 GRCh38: Chr9:34724788	PHF24, SPATA31F1	V818L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20896626.	NM_001141917.2(SPATA31F1):c.2554G>A (p.Val852Ile) GRCh37: Chr9:34724683 GRCh38: Chr9:34724686	PHF24, SPATA31F1	V852I	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20896527.	NM_001141917.2(SPATA31F1):c.2939A>T (p.Asn980Ile) GRCh37: Chr9:34724298 GRCh38: Chr9:34724301	PHF24, SPATA31F1	N980I	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20896428.	NM_001141917.2(SPATA31F1):c.3619A>C (p.Thr1207Pro) GRCh37: Chr9:34723618 GRCh38: Chr9:34723621	PHF24, SPATA31F1	T1207P	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20896329.	NM_001141917.2(SPATA31F1):c.3986A>C (p.Asn1329Thr) GRCh37: Chr9:34723251 GRCh38: Chr9:34723254	PHF24, SPATA31F1	N1329T	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20896030.	NM_001382273.1(TNK2):c.766C>T (p.Arg256Cys) GRCh37: Chr3:195609043 GRCh38: Chr3:195882172	TNK2	R256C, R280C, R288C	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20895931.	NM_001382273.1(TNK2):c.1777G>A (p.Val593Met) GRCh37: Chr3:195595392 GRCh38: Chr3:195868521	TNK2	V578M, V617M, V610M, V593M, V602M, V625M	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20895832.	NM_015687.5(FILIP1):c.923C>T (p.Ser308Leu) GRCh37: Chr6:76024625 GRCh38: Chr6:75314909	FILIP1	S308L, S311L	Inborn genetic diseases	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 20895733.	NM_015687.5(FILIP1):c.1483A>G (p.Lys495Glu) GRCh37: Chr6:76024065 GRCh38: Chr6:75314349	FILIP1	K495E, K498E	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20895634.	NM_015687.5(FILIP1):c.3316G>C (p.Gly1106Arg) GRCh37: Chr6:76022232 GRCh38: Chr6:75312516	FILIP1	G1106R, G1109R	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20895535.	NM_001377405.1(ATXN7):c.844G>A (p.Val282Met) GRCh37: Chr3:63967953 GRCh38: Chr3:63982277	ATXN7	V282M, V137M	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20895436.	NM_001377405.1(ATXN7):c.211T>G (p.Ser71Ala) GRCh37: Chr3:63898485 GRCh38: Chr3:63912809	ATXN7, LOC129936979	S71A	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20895137.	NM_022065.5(THADA):c.362G>A (p.Arg121His) GRCh37: Chr2:43814082 GRCh38: Chr2:43586943	THADA	R121H	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20895038.	NM_022065.5(THADA):c.2468C>T (p.Ser823Leu) GRCh37: Chr2:43783690 GRCh38: Chr2:43556551	THADA	S823L, S783L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20894939.	NM_003796.3(URI1):c.698C>T (p.Thr233Ile) GRCh37: Chr19:30499923 GRCh38: Chr19:30009016	URI1	T215I, T233I	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20894840.	NM_001252641.2(URI1):c.33C>A (p.His11Gln) GRCh37: Chr19:30414631 GRCh38: Chr19:29923724	URI1	H11Q	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20894741.	NM_001267550.2(TTN):c.1051G>A (p.Val351Met) GRCh37: Chr2:179659843 GRCh38: Chr2:178795116	TTN	V351M	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Uncertain significance (Jan 5, 2018)	criteria provided, single submitter
Select item 20894642.	NM_001988.4(EVPL):c.314G>A (p.Arg105Gln) GRCh37: Chr17:74019620 GRCh38: Chr17:76023539	EVPL	R105Q	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20894543.	NM_001988.4(EVPL):c.4126G>T (p.Val1376Leu) GRCh37: Chr17:74005160 GRCh38: Chr17:76009079	EVPL	V1376L, V1398L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20894444.	NM_001401501.2(MUC16):c.2620_2621del (p.Ser874_Pro875insTer) GRCh37: Chr19:9089314-9089315 GRCh38: Chr19:8978638-8978639	MUC16		Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20894345.	NM_001401501.2(MUC16):c.26486C>T (p.Pro8829Leu) GRCh37: Chr19:9061080 GRCh38: Chr19:8950404	MUC16	P8789L, P8829L, P8971L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20894246.	NM_001394639.1(MROH2A):c.2837_2838dup (p.Leu947fs) GRCh37: Chr2:234723301-234723302 GRCh38: Chr2:233814655-233814656	MROH2A	L947fs	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20894147.	NM_001394639.1(MROH2A):c.1952G>A (p.Arg651Gln) GRCh37: Chr2:234713657 GRCh38: Chr2:233805011	MROH2A	R651Q	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893948.	NM_002116.8(HLA-A):c.658G>C (p.Asp220His) GRCh37: Chr6:29911937 GRCh38: Chr6:29944160	HLA-A	D220H	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893849.	NM_002116.8(HLA-A):c.383G>A (p.Gly128Glu) GRCh37: Chr6:29911084 GRCh38: Chr6:29943307	HLA-A	G128E	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893750.	NM_001378328.1(CELSR1):c.6224C>T (p.Ala2075Val) GRCh37: Chr22:46787109 GRCh38: Chr22:46391212	CELSR1	A2075V	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893651.	NM_001378328.1(CELSR1):c.7268C>T (p.Thr2423Met) GRCh37: Chr22:46774603 GRCh38: Chr22:46378706	CELSR1	T2423M	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893552.	NM_022835.3(PLEKHG2):c.4073T>C (p.Leu1358Ser) GRCh37: Chr19:39915846 GRCh38: Chr19:39425206	PLEKHG2	L1358S	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893453.	NM_022835.3(PLEKHG2):c.1230C>A (p.Phe410Leu) GRCh37: Chr19:39909610 GRCh38: Chr19:39418970	PLEKHG2	F410L, F351L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893254.	NM_001308172.2(ACSM2A):c.1414C>T (p.Arg472Trp) GRCh37: Chr16:20492148 GRCh38: Chr16:20480826	ACSM2A	R472W, R393W	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893155.	NM_001308172.2(ACSM2A):c.72C>G (p.Tyr24Ter) GRCh37: Chr16:20471508 GRCh38: Chr16:20460186	ACSM2A	Y24*	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20893056.	NM_017554.3(PARP14):c.2083C>A (p.Pro695Thr) GRCh37: Chr3:122419484 GRCh38: Chr3:122700637	PARP14	P695T	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892957.	NM_017554.3(PARP14):c.1455T>A (p.Ser485Arg) GRCh37: Chr3:122418856 GRCh38: Chr3:122700009	PARP14	S485R	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892858.	NM_018323.4(PI4K2B):c.861G>T (p.Gln287His) GRCh37: Chr4:25260763 GRCh38: Chr4:25259141	PI4K2B	Q287H	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892759.	NM_018323.4(PI4K2B):c.10C>A (p.Pro4Thr) GRCh37: Chr4:25235795 GRCh38: Chr4:25234173	PI4K2B	P4T	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892660.	NM_015158.5(KANK1):c.3992C>G (p.Ser1331Cys) GRCh37: Chr9:744585 GRCh38: Chr9:744585	KANK1	S1331C, S1075C, S1093C, S1173C, S1251C, S1313C, S1155C	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892561.	NM_015158.5(KANK1):c.5del (p.Ala2fs) GRCh37: Chr9:676977 GRCh38: Chr9:676977	KANK1	A2fs	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892462.	NM_017551.3(GRID1):c.437C>T (p.Pro146Leu) GRCh37: Chr10:87966204 GRCh38: Chr10:86206447	GRID1	P146L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892363.	NM_017551.3(GRID1):c.442C>T (p.Arg148Cys) GRCh37: Chr10:87966199 GRCh38: Chr10:86206442	GRID1	R148C	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892264.	NM_145037.4(NXPE3):c.956G>C (p.Gly319Ala) GRCh37: Chr3:101535672 GRCh38: Chr3:101816828	NXPE3	G319A	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892165.	NM_145037.4(NXPE3):c.463del (p.Ala155fs) GRCh37: Chr3:101520447 GRCh38: Chr3:101801603	NXPE3	A155fs	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20892066.	NM_145037.4(NXPE3):c.452_459del (p.Leu151fs) GRCh37: Chr3:101520437-101520444 GRCh38: Chr3:101801593-101801600	NXPE3	L151fs	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20891867.	NM_001401501.2(MUC16):c.7075A>G (p.Ile2359Val) GRCh37: Chr19:9084860 GRCh38: Chr19:8974184	MUC16	I2319V, I2359V, I2501V	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20891768.	NM_001401501.2(MUC16):c.7099del (p.Ser2367fs) GRCh37: Chr19:9084836 GRCh38: Chr19:8974160	MUC16	S2327fs, S2367fs, S2509fs	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20891669.	NM_001401501.2(MUC16):c.10420T>C (p.Ser3474Pro) GRCh37: Chr19:9077146 GRCh38: Chr19:8966470	MUC16	S3434P, S3474P, S3616P	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20891570.	NM_001401501.2(MUC16):c.26300C>T (p.Ala8767Val) GRCh37: Chr19:9061266 GRCh38: Chr19:8950590	MUC16	A8727V, A8767V, A8909V	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20891471.	NM_020160.2(MEIS3):c.202C>A GRCh37: Chr19:47920204 GRCh38: Chr19:47416947	MEIS3	L68I, L65I	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20891372.	NM_006484.1(DYRK1B):c.625G>A GRCh37: Chr19:40319119 GRCh38: Chr19:39828479	DYRK1B	V209I	DYRK1B-related condition	Uncertain significance (May 31, 2023)	criteria provided, single submitter
Select item 20891273.	NM_001828.5(CLC):c.389T>G GRCh37: Chr19:40222060 GRCh38: Chr19:39731420	CLC	I130S	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20891074.	NM_001083961.1(WDR62):c.2030T>C GRCh37: Chr19:36581418 GRCh38: Chr19:36090516	WDR62	L677P	Abnormality of neuronal migration	Pathogenic (Oct 31, 2014)	no assertion criteria provided
Select item 20890975.	NM_002918.5(RFX1):c.2695G>A (p.Gly899Ser) GRCh37: Chr19:14073963 GRCh38: Chr19:13963151	RFX1	G899S	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20890876.	NM_005371.5(METTL1):c.542T>C GRCh37: Chr12:58163379 GRCh38: Chr12:57769596	METTL1	L181P	Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 20890677.	NM_004538.6(NAP1L3):c.1310C>G (p.Ala437Gly) GRCh37: ChrX:92926994 GRCh38: ChrX:93671995	NAP1L3	A437G	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20890478.	NM_002536.4(TBC1D25):c.1145T>G (p.Leu382Arg) GRCh37: ChrX:48418441 GRCh38: ChrX:48560053	TBC1D25	L382R, L386R, L398R, L324R	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20890379.	NM_203408.4(FAM47A):c.1310C>T (p.Thr437Met) GRCh37: ChrX:34149086 GRCh38: ChrX:34130969	FAM47A	T437M	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20890280.	NM_001388459.1(FRMPD3):c.2504G>T (p.Arg835Leu) GRCh37: ChrX:106843773 GRCh38: ChrX:107600543	FRMPD3	R868L, R700L, R835L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20890081.	NM_004650.3(PNPLA4):c.224G>A (p.Arg75Lys) GRCh37: ChrX:7890096 GRCh38: ChrX:7922055	LOC126863198, PNPLA4	R75K	Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 20889982.	NM_080701.4(TREX2):c.259C>T (p.Arg87Ter) GRCh37: ChrX:152710630 GRCh38: ChrX:153445172	TREX2	R87*	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20889783.	NM_016024.4(RBMX2):c.860G>A (p.Arg287His) GRCh37: ChrX:129546713 GRCh38: ChrX:130412739	RBMX2	R287H	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20889584.	NM_032621.4(BEX2):c.-65G>A GRCh37: ChrX:102565345 GRCh38: ChrX:103310417	BEX2	C11Y, C10Y	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20889385.	NM_001394560.1(ZMAT1):c.1984C>T (p.Pro662Ser) GRCh37: ChrX:101138586 GRCh38: ChrX:101883614	ZMAT1	P605S, P434S, P662S	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20889186.	NM_053281.3(DACH2):c.1261C>T (p.Pro421Ser) GRCh37: ChrX:86067879 GRCh38: ChrX:86812876	DACH2	P421S, P254S, P408S	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20889087.	NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His) GRCh37: ChrX:49082487 GRCh38: ChrX:49226025	CACNA1F	R523H, R458H, R512H	Congenital stationary night blindness 2A, Ocular albinism, type II, X-linked cone-rod dystrophy 3, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20888988.	NM_015884.4(MBTPS2):c.1013A>T (p.His338Leu) GRCh37: ChrX:21896202 GRCh38: ChrX:21878084	MBTPS2	H338L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20888889.	NM_007131.5(ZNF75D):c.1100G>A (p.Cys367Tyr) GRCh37: ChrX:134421502 GRCh38: ChrX:135287570	ZNF75D	C367Y, C272Y	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20888790.	NM_001256155.3(ARMCX4):c.574A>T (p.Thr192Ser) GRCh37: ChrX:100744150 GRCh38: ChrX:101489163	ARMCX4	T192S	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20888591.	NM_000292.3(PHKA2):c.2951T>C (p.Ile984Thr) GRCh37: ChrX:18919679 GRCh38: ChrX:18901561	PHKA2	I984T	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 20888492.	NM_203408.4(FAM47A):c.127A>G (p.Met43Val) GRCh37: ChrX:34150269 GRCh38: ChrX:34132152	FAM47A	M43V	Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 20888393.	NM_021963.4(NAP1L2):c.508T>C (p.Ser170Pro) GRCh37: ChrX:72433821 GRCh38: ChrX:73213985	NAP1L2	S170P	Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 20888294.	NM_006044.4(HDAC6):c.1538G>A (p.Arg513His) GRCh37: ChrX:48674592 GRCh38: ChrX:48816185	HDAC6	R513H, R527H	Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 20888195.	NM_033518.4(SLC38A5):c.806T>C (p.Phe269Ser) GRCh37: ChrX:48320149 GRCh38: ChrX:48461763	SLC38A5	F269S	Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 20888096.	NM_001304548.2(CFAP47):c.8311A>G (p.Met2771Val) GRCh37: ChrX:36329071 GRCh38: ChrX:36310956	CXorf30, CFAP47	M2771V	Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 20887997.	NM_001079855.2(GYG2):c.340G>A (p.Asp114Asn) GRCh37: ChrX:2773049 GRCh38: ChrX:2855008	GYG2	D145N, D114N	Abnormality of neuronal migration	Uncertain significance (Oct 31, 2014)	no assertion criteria provided
Select item 20887898.	NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) GRCh37: ChrX:153577258 GRCh38: ChrX:154348890	FLNA, LOC107988032	E2635K, E2627K	not provided, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 20887799.	NM_017711.4(GDPD2):c.395C>T (p.Ala132Val) GRCh37: ChrX:69646252 GRCh38: ChrX:70426402	GDPD2	A132V, A53V	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided
Select item 208875100.	NM_001324144.2(ZNF41):c.677A>T (p.His226Leu) GRCh37: ChrX:47308492 GRCh38: ChrX:47449093	ZNF41	H226L, H192L, H268L, H140L, H190L, H260L, H228L, H236L	Abnormality of neuronal migration	Benign (Oct 31, 2014)	no assertion criteria provided

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