ClinVar (all) for Orgtrack (Select 506968) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920728	NM_002608.4(PDGFB):c.-318C>T	PDGFB	Single nucleotide variant (5 prime UTR variant)	Basal ganglia calcification, idiopathic, 5	GLikely pathogenic
Select item 2920727	NM_002608.4(PDGFB):c.-373C>G	PDGFB	Single nucleotide variant (5 prime UTR variant)	Basal ganglia calcification, idiopathic, 5	GLikely pathogenic
Select item 2920720	NM_002547.2(OPHN1):c.313_326del	OPHN1	Deletion	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 2920719	NM_001348716.2(KDM6B):c.4469-9G>A	KDM6B, LOC121587574	Single nucleotide variant (intron variant)	Developmental disorder	GUncertain significance
Select item 2920718	NM_006421.5(ARFGEF1):c.398C>T (p.Thr133Ile)	ARFGEF1 (T133I)	Single nucleotide variant (missense variant +2 more)	Developmental disorder	GUncertain significance
Select item 2920717	NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)	ANKRD11 (E662fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2920716	NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)	KIF21A (P839S +2 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GLikely pathogenic
Select item 2920715	NM_003128.3(SPTBN1):c.328A>T (p.Ile110Phe)	SPTBN1 (I110F +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2920714	NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)	CHD2 (S1213P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 2920713	NM_001083619.3(GRIA2):c.2263dup (p.Ile755fs)	GRIA2 (I755fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with language impairment and behavioral abnormalities	GPathogenic
Select item 2920712	NM_001031710.3(KLHL7):c.619-349A>G	KLHL7	Single nucleotide variant (intron variant)	PERCHING syndrome	GLikely pathogenic
Select item 2920711	NM_000540.3(RYR1):c.10865del (p.Lys3622fs)	RYR1 (K3622fs +1 more)	Deletion (frameshift variant)	RYR1-related myopathy	GPathogenic
Select item 2920710	NM_000836.4(GRIN2D):c.2599C>T (p.His867Tyr)	GRIN2D (H867Y)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2920709	NM_001379291.1(BRD4):c.2728dup (p.Gln910fs)	BRD4 (Q910fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 6	GLikely pathogenic
Select item 2920708	NM_006852.6(TLK2):c.944G>T (p.Gly315Val)	LOC126862611, TLK2 (G220V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 2920707	NM_018149.7(SMG8):c.971dup (p.Asn324fs)	SMG8 (N324fs)	Duplication (frameshift variant)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2920706	NM_003482.4(KMT2D):c.7199del (p.Pro2400fs)	KMT2D (P2400fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2920705	NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly)	SLC12A2 (D510G)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2920704	NM_001393769.1(MED12L):c.1826A>G (p.His609Arg)	MED12L (H609R)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2920703	NM_001371986.1(UNC80):c.6337C>T (p.Arg2113Ter)	UNC80 (R2113* +2 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 2920702	NM_001197104.2(KMT2A):c.10426G>C (p.Asp3476His)	KMT2A (D3473H +2 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2920701	NM_001367721.1(CASK):c.1994A>G (p.Lys665Arg)	CASK (K665R +3 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2920700	NM_001348323.3(TRIP12):c.3035A>C (p.Glu1012Ala)	TRIP12 (E943A +8 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2920699	NM_018149.7(SMG8):c.2435T>G (p.Leu812Ter)	SMG8 (L812*)	Single nucleotide variant (nonsense)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2920698	NM_001385012.1(NBEA):c.2578G>T (p.Glu860Ter)	NBEA (E860*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely pathogenic
Select item 2920697	NM_015015.3(KDM4B):c.496G>A (p.Gly166Ser)	KDM4B (G166S)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2920696	NM_007347.5(AP4E1):c.150+593C>G	AP4E1	Single nucleotide variant (intron variant)	Developmental disorder	GLikely pathogenic
Select item 2920695	NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter)	CELF4 (Y140* +6 more)	Single nucleotide variant (nonsense +1 more)	Developmental disorder	GLikely pathogenic
Select item 2920694	NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)	CHD8 (Q131* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2920693	NM_001368894.2(PAX6):c.400G>A (p.Val134Met)	PAX6 (V159M +7 more)	Single nucleotide variant (missense variant +2 more)	Developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 2920692	NM_001379291.1(BRD4):c.3312_3319del (p.Gln1105fs)	BRD4 (Q1105fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 6	GLikely pathogenic
Select item 2920691	NM_001282531.3(ADNP):c.2182A>C (p.Lys728Gln)	ADNP (K728Q)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2920690	NM_001162501.2(TNRC6B):c.1723G>A (p.Gly575Arg)	TNRC6B (G575R)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2920689	NM_003073.5(SMARCB1):c.110G>T (p.Arg37Leu)	SMARCB1 (R37L)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2920688	NM_000944.5(PPP3CA):c.113A>T (p.Asp38Val)	PPP3CA (D38V)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2920687	NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)	ARID1A (R1772G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 2920686	NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)	CAMK2A (R259C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53	GLikely pathogenic
Select item 2920685	NM_005120.3(MED12):c.1836_1842dup (p.Thr615fs)	MED12 (T615fs)	Duplication (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
Select item 2920684	NM_006772.3(SYNGAP1):c.1516C>T (p.Leu506Phe)	SYNGAP1, SYNGAP1-AS1 (L506F)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2920683	NM_003238.6(TGFB2):c.9del (p.Cys4fs)	TGFB2 (C4fs)	Deletion (frameshift variant +1 more)	Loeys-Dietz syndrome 4	GPathogenic
Select item 2920682	NM_001378183.1(PIEZO2):c.382G>A (p.Gly128Arg)	PIEZO2 (G128R)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 2920681	NM_001378183.1(PIEZO2):c.3923+1G>T	PIEZO2	Single nucleotide variant (splice donor variant)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 2920680	NM_153252.5(BRWD3):c.439dup (p.Thr147fs)	BRWD3 (T147fs)	Duplication (frameshift variant)	Intellectual disability, X-linked 93	GLikely pathogenic
Select item 2920679	NM_014159.7(SETD2):c.557C>G (p.Pro186Arg)	SETD2 (P142R +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GLikely benign
Select item 2920678	NM_005157.6(ABL1):c.2170dup (p.His724fs)	ABL1 (H743fs +1 more)	Duplication (frameshift variant)	Developmental disorder	GUncertain significance
Select item 2920677	NM_001015877.2(PHF6):c.449A>T (p.Glu150Val)	PHF6 (E151V +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2920676	NM_001080517.3(SETD5):c.387del (p.Gly130fs)	SETD5 (G130fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 2920675	NM_002069.6(GNAI1):c.1A>G (p.Met1Val)	GNAI1 (M1V)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2628091	NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)	FSD1L (Q438* +3 more)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GPathogenic
Select item 2430112	NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs)	ANKRD11 (E675fs)	Duplication (frameshift variant)	Developmental disorder +1 more	GPathogenic
Select item 2430111	NM_001256012.3(MYH10):c.3364G>T (p.Glu1122Ter)	MYH10 (E1091* +3 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2430110	NM_001349338.3(FOXP1):c.1280C>T (p.Thr427Ile)	FOXP1 (T326I +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2430109	NM_015215.4(CAMTA1):c.234+62436_234+62440del	CAMTA1	Deletion (non-coding transcript variant +1 more)	Developmental disorder	GLikely benign
Select item 2430108	NM_001220.5(CAMK2B):c.767A>G (p.Asn256Ser)	CAMK2B (N256S)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 2430107	NM_001220.5(CAMK2B):c.1528G>T (p.Glu510Ter)	CAMK2B (E510*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2430106	NM_001219.5(CALU):c.700C>T (p.Arg234Ter)	CALU (R234* +1 more)	Single nucleotide variant (nonsense +2 more)	Developmental disorder	GLikely pathogenic
Select item 2430105	NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu)	KCNQ3 (F407L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2430104	NM_001197104.2(KMT2A):c.9575A>C (p.Gln3192Pro)	KMT2A (Q3189P +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2430103	NM_001197104.2(KMT2A):c.836C>G (p.Ser279Cys)	KMT2A (S279C +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430102	NM_001197104.2(KMT2A):c.3569+2T>G	KMT2A	Single nucleotide variant (splice donor variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2430101	NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)	POGZ (Y378C +5 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2430100	NM_022720.7(DGCR8):c.2060_2061del (p.His687fs)	DGCR8 (H654fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GUncertain significance
Select item 2430099	NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)	FBXO11, MSH6 (A832V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 2430098	NM_001190274.2(FBXO11):c.1921G>A (p.Val641Ile)	FBXO11 (V557I +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely pathogenic
Select item 2430097	NM_001172509.2(SATB2):c.1166G>C (p.Arg389Pro)	SATB2 (R389P)	Single nucleotide variant (missense variant)	Developmental disorder	GPathogenic
Select item 2430096	NM_031206.7(LAS1L):c.949G>A (p.Glu317Lys)	LAS1L (E275K +1 more)	Single nucleotide variant (missense variant +2 more)	Autism spectrum disorder	GUncertain significance
Select item 2430095	NM_001197104.2(KMT2A):c.10835+1G>A	KMT2A	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2430094	NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)	CHD8 (Q1171* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 2430093	NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)	CHD8 (L701fs +1 more)	Indel (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430092	NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)	CHD8 (K249fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430091	NM_014989.7(RIMS1):c.1679-20550G>A	RIMS1	Single nucleotide variant (intron variant +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 2430090	NM_001389617.1(NAV1):c.6015G>A (p.Trp2005Ter)	NAV1, IPO9-AS1 (W1259* +8 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely benign
Select item 2430089	NM_021956.5(GRIK2):c.215C>A (p.Pro72His)	GRIK2 (P72H)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 2430088	NM_000810.4(GABRA5):c.730T>C (p.Tyr244His)	GABRA5 (Y244H)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430087	NM_006885.4(ZFHX3):c.7090C>G (p.Gln2364Glu)	ZFHX3, ZFHX3-AS1 (Q1450E +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430086	NM_001348800.3(ZBTB20):c.-342-50205del	ZBTB20	Deletion (splice acceptor variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2430085	NM_170606.3(KMT2C):c.817G>A (p.Val273Met)	KMT2C (V273M)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GUncertain significance
Select item 2430084	NM_000142.5(FGFR3):c.172G>C (p.Glu58Gln)	FGFR3 (E58Q)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2430083	NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)	TNRC6B (Q881*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GPathogenic
Select item 2430082	NM_001162501.2(TNRC6B):c.2233G>A (p.Gly745Arg)	TNRC6B (G745R)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2430081	NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)	ANK2 (E1862* +4 more)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GPathogenic
Select item 2430080	NM_015151.4(DIP2A):c.4446C>G (p.His1482Gln)	DIP2A (H1478Q +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430079	NM_001144967.3(NEDD4L):c.2399C>A (p.Thr800Lys)	NEDD4L (T659K +6 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430078	NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)	NRXN1 (L158fs)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430077	NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)	NRXN1 (E336fs +5 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430076	NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs)	PPP3CA (N461fs +2 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely benign
Select item 2430075	NM_001130438.3(SPTAN1):c.3102T>G (p.Asn1034Lys)	SPTAN1 (N1034K +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430074	NM_000719.7(CACNA1C):c.1480G>T (p.Ala494Ser)	CACNA1C (A491S +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430073	NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)	AEBP1 (C868*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely pathogenic
Select item 2430072	NM_001148.6(ANK2):c.3580G>T (p.Val1194Leu)	ANK2 (V1033L +37 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2430071	NM_015570.4(AUTS2):c.2887G>C (p.Glu963Gln)	AUTS2 (E939Q +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430070	NM_015570.4(AUTS2):c.796_818del (p.Pro266fs)	AUTS2 (P266fs)	Deletion (frameshift variant)	Developmental disorder	GPathogenic
Select item 2430069	NM_001110792.2(MECP2):c.60A>C (p.Arg20Ser)	MECP2 (R20S)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2430068	NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)	HECTD4 (A3242fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2430067	NM_001105562.3(UBE4B):c.3307C>T (p.Gln1103Ter)	UBE4B (Q1103* +2 more)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 2430066	NM_001184880.2(PCDH19):c.1516G>A (p.Val506Ile)	PCDH19 (V506I)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430065	NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val)	TCF4 (G284V +13 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2430064	NM_001082538.3(TCTN1):c.1105-3C>G	TCTN1	Single nucleotide variant (intron variant)	Developmental disorder	GUncertain significance
Select item 2430063	NM_001372044.2(SHANK3):c.4907dup (p.Tyr1636Ter)	SHANK3 (Y1636*)	Duplication (nonsense +1 more)	Phelan-McDermid syndrome	GPathogenic
Select item 2430062	NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)	SCN2A (F601fs)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic

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