ClinVar (all) for Orgtrack (Select 505806) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299303	NM_004278.4(PIGL):c.154G>A (p.Asp52Asn)	PIGL (D52N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 374254	NM_020320.5(RARS2):c.407T>C (p.Val136Ala)	RARS2 (V136A)	Single nucleotide variant (missense variant +3 more)	Pontocerebellar hypoplasia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 374253	NM_001172509.2(SATB2):c.1198A>G (p.Lys400Glu)	SATB2 (K400E)	Single nucleotide variant (missense variant)	intellectual deficiency	GUncertain significance
Select item 374252	NM_001429.4(EP300):c.2161dup (p.Ala721fs)	EP300 (A695fs +1 more)	Duplication (frameshift variant)	intellectual deficiency +1 more	GLikely pathogenic
Select item 374251	NM_020812.4(DOCK6):c.934C>T (p.His312Tyr)	DOCK6 (H312Y)	Single nucleotide variant (missense variant)	Macrocephaly +1 more	GUncertain significance
Select item 374250	NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg)	STRADA (S264R +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy	GUncertain significance
Select item 374249	NM_001040142.2(SCN2A):c.4063_4075del (p.Gly1355fs)	SCN2A (G1355fs)	Deletion (frameshift variant)	intellectual deficiency	GLikely pathogenic
Select item 374248	NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs)	ARID1B (P387fs +4 more)	Duplication (frameshift variant)	Coffin-Siris syndrome	GLikely pathogenic
Select item 374247	NM_021120.4(DLG3):c.1469G>A (p.Ser490Asn)	DLG3 (S490N +2 more)	Single nucleotide variant (missense variant)	Epilepsy +1 more	GUncertain significance
Select item 374246	NM_001039591.3(USP9X):c.5339_5340del (p.Thr1780fs)	USP9X (T1780fs)	Deletion (frameshift variant)	Severe intellectual deficiency	GLikely pathogenic
Select item 374245	NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)	PORCN (W189R +1 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 374244	NM_030632.3(ASXL3):c.1986C>A (p.Tyr662Ter)	ASXL3 (Y662*)	Single nucleotide variant (nonsense)	Language retardation +1 more	GLikely pathogenic
Select item 374243	NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)	GRIN2B (V558I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +3 more	GPathogenic/Likely pathogenic
Select item 374242	NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs)	KAT6B (R760fs +7 more)	Deletion (frameshift variant)	TWIST1-related craniosynostosis +1 more	GUncertain significance
Select item 374241	NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln)	CDK5RAP2 (R591Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 374240	NM_001374828.1(ARID1B):c.6726del (p.Asp2244fs)	ARID1B (D2121fs +4 more)	Deletion (frameshift variant)	dysmorphy +1 more	GLikely pathogenic
Select item 374239	NM_002397.5(MEF2C):c.152C>T (p.Thr51Ile)	MEF2C (T51I)	Single nucleotide variant (missense variant)	Epilepsy +1 more	GUncertain significance
Select item 374238	NM_005660.3(SLC35A2):c.500_509del (p.Leu167fs)	SLC35A2 (L167fs +3 more)	Deletion (frameshift variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 374237	NM_001349338.3(FOXP1):c.1348+2T>C	FOXP1	Single nucleotide variant (splice donor variant)	Autism	GLikely pathogenic
Select item 374236	NM_017635.5(KMT5B):c.930del (p.Phe311fs)	KMT5B (F288fs +4 more)	Deletion (frameshift variant +1 more)	Language retardation	GUncertain significance
Select item 374235	NM_015080.4(NRXN2):c.551T>G (p.Leu184Arg)	NRXN2 (L184R)	Single nucleotide variant (missense variant)	Severe intellectual deficiency +1 more	GUncertain significance
Select item 374234	NM_016529.6(ATP8A2):c.1883G>A (p.Cys628Tyr)	ATP8A2 (C628Y +1 more)	Single nucleotide variant (missense variant)	Severe intellectual deficiency +1 more	GUncertain significance
Select item 374233	NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)	KLF7 (D264N +2 more)	Single nucleotide variant (synonymous variant +2 more)	KLF7-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 374232	NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro)	CACNA1C (L614P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures +2 more	GConflicting classifications of pathogenicity
Select item 374231	NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)	IQSEC2 (Q952* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual deficiency +1 more	GLikely pathogenic
Select item 374230	NM_001134673.4(NFIA):c.905del (p.Gly302fs)	NFIA (G294fs +2 more)	Deletion (frameshift variant)	Cleft palate +1 more	GLikely pathogenic
Select item 374229	NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter)	ADNP (R225*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374228	NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn)	SMARCA2 (H484N)	Single nucleotide variant (missense variant)	Severe intellectual deficiency +1 more	GUncertain significance
Select item 374227	NM_001032221.6(STXBP1):c.1072del (p.Tyr358fs)	STXBP1 (Y358fs +3 more)	Deletion (frameshift variant)	Severe intellectual deficiency	GLikely pathogenic
Select item 374226	NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)	GRIN2B (M706V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely pathogenic
Select item 374225	NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs)	ANKRD11 (P2073fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 374224	NM_015570.4(AUTS2):c.1605C>G (p.His535Gln)	AUTS2 (H535Q)	Single nucleotide variant (missense variant)	Pierre Robin-like syndrome	GLikely pathogenic
Select item 374223	NM_001032221.6(STXBP1):c.1082C>T (p.Thr361Ile)	STXBP1 (T361I +3 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 374222	NM_001374828.1(ARID1B):c.5394+1G>A	ARID1B	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome	GLikely pathogenic
Select item 374221	NM_001289396.1:c.[3495G>C(;)3917G>A]	SMARCA2 (R1306K +3 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 374220	NM_134261.3(RORA):c.1019del (p.Arg340fs)	RORA, RORA-AS1 (R340fs +3 more)	Deletion (frameshift variant)	Severe intellectual deficiency +1 more	GPathogenic/Likely pathogenic
Select item 374219	NM_004523.4(KIF11):c.862_871del (p.Ile288fs)	KIF11 (I288fs)	Deletion (frameshift variant)	Retinal dysplasia +2 more	GLikely pathogenic
Select item 373048	NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)	POGZ (M332fs +4 more)	Deletion (frameshift variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 369753	NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)	KCNQ2 (R201H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 328039	NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)	SMARCA4 (R1443Q +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +4 more	GUncertain significance
Select item 280699	NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)	KMT2A (R1101*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 280241	NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)	IQSEC2 (Y64fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 235093	NM_001377229.1(DISP1):c.2898G>A (p.Trp966Ter)	DISP1 (W966* +1 more)	Single nucleotide variant (nonsense)	Microform holoprosencephaly	GLikely pathogenic
Select item 235092	NM_001377229.1(DISP1):c.1657G>A (p.Glu553Lys)	DISP1 (E553K +1 more)	Single nucleotide variant (missense variant)	Lobar holoprosencephaly	GUncertain significance
Select item 235091	NM_001377229.1(DISP1):c.1087A>G (p.Asn363Asp)	DISP1 (N363D +1 more)	Single nucleotide variant (missense variant)	Lobar holoprosencephaly	GUncertain significance
Select item 235090	NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu)	DLL1, LOC126859913 (S706L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235089	NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal)	DLL1	Deletion (inframe_indel)	not provided +1 more	GBenign/Likely benign
Select item 235088	NM_023110.3(FGFR1):c.2074G>A (p.Glu692Lys)	FGFR1 (E692K +7 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GLikely pathogenic
Select item 235087	NM_023110.3(FGFR1):c.1977+1G>A	FGFR1	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +2 more	GPathogenic/Likely pathogenic
Select item 235086	NM_023110.3(FGFR1):c.1928G>A (p.Gly643Asp)	FGFR1 (G643D +7 more)	Single nucleotide variant (missense variant)	Microform holoprosencephaly	GLikely pathogenic
Select item 235085	NM_023110.3(FGFR1):c.1454G>T (p.Gly485Val)	FGFR1 (G485V +7 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 235084	NM_023110.3(FGFR1):c.749G>C (p.Arg250Pro)	FGFR1 (R250P +5 more)	Single nucleotide variant (missense variant)	Lobar holoprosencephaly	GLikely pathogenic
Select item 235083	NM_033163.5(FGF8):c.617G>A (p.Arg206Gln)	FGF8 (R206Q +4 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 235082	NM_033163.5(FGF8):c.385C>T (p.Arg129Ter)	FGF8 (R129* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 235081	NM_033163.5(FGF8):c.356C>T (p.Thr119Met)	FGF8 (T119M +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 235080	NM_033163.5(FGF8):c.317C>A (p.Ala106Glu)	FGF8 (A106E +4 more)	Single nucleotide variant (missense variant)	Semilobar holoprosencephaly	GLikely pathogenic
Select item 235079	NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr)	GLI2	Single nucleotide variant (stop lost)	Microform holoprosencephaly	GLikely pathogenic
Select item 235078	NM_001374353.1(GLI2):c.2186G>A (p.Trp729Ter)	GLI2 (W746* +2 more)	Single nucleotide variant (nonsense)	Microform holoprosencephaly	GLikely pathogenic
Select item 235077	NM_001374353.1(GLI2):c.2013del (p.Ser673fs)	GLI2 (S690fs +2 more)	Deletion (frameshift variant)	Microform holoprosencephaly	GLikely pathogenic
Select item 235076	NM_001374353.1(GLI2):c.790C>T (p.Arg264Ter)	GLI2 (R264* +1 more)	Single nucleotide variant (nonsense)	Microform holoprosencephaly	GLikely pathogenic
Select item 235075	NM_001374353.1(GLI2):c.596dup (p.Ala200fs)	GLI2 (A75fs +1 more)	Duplication (frameshift variant)	Microform holoprosencephaly	GLikely pathogenic
Select item 235074	NM_001374353.1(GLI2):c.349G>A (p.Ala117Thr)	GLI2 (A117T)	Single nucleotide variant (missense variant +1 more)	Microform holoprosencephaly	GUncertain significance
Select item 234790	NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr)	GRIN2B (I695T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 223244	NM_023110.3(FGFR1):c.1468G>C (p.Gly490Arg)	FGFR1 (G397R +6 more)	Single nucleotide variant (missense variant)	Hartsfield-Bixler-Demyer syndrome	GLikely pathogenic
Select item 207196	NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)	SLC2A1 (R330*)	Single nucleotide variant (nonsense)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GPathogenic
Select item 205484	NM_005249.5(FOXG1):c.545C>T (p.Pro182Leu)	FOXG1 (P182L)	Single nucleotide variant (missense variant)	FOXG1 disorder	GLikely pathogenic
Select item 135281	NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)	SUFU (P341L)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 30544	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	PIGL (L167P)	Single nucleotide variant (missense variant)	CHIME syndrome +3 more	GPathogenic
Select item 7370	NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)	TCF4 (R576W +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenic FDA Recognized database

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Items: 69