ClinVar for PubMed (Select 18414213) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691822	NM_001368894.2(PAX6):c.823dup (p.Arg275fs)	PAX6 (R125fs +9 more)	Duplication (frameshift variant +1 more)	Aniridia 1	GLikely pathogenic
Select item 2691821	NM_001368894.2(PAX6):c.725-2A>G	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1	GLikely pathogenic
Select item 2691820	NM_001368894.2(PAX6):c.399+1_399+2insATAACA	PAX6	Insertion (5 prime UTR variant +2 more)	Aniridia 1	GLikely pathogenic
Select item 2691819	NM_001368894.2(PAX6):c.398del (p.Ser133fs)	PAX6 (S119fs +5 more)	Deletion (frameshift variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 2691818	NM_001368894.2(PAX6):c.140A>T (p.Gln47Leu)	PAX6 (Q128L +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 2691817	NM_001368894.2(PAX6):c.102_103del (p.His34fs)	PAX6 (H115fs +2 more)	Microsatellite (frameshift variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 2691816	NM_001368894.2(PAX6):c.1196del (p.Pro399fs)	PAX6 (P184fs +8 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GLikely pathogenic
Select item 2691815	NM_001368894.2(PAX6):c.850A>T (p.Lys284Ter)	PAX6 (K134* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1	GLikely pathogenic
Select item 2691814	NM_001368894.2(PAX6):c.49_61del (p.Asn17fs)	PAX6 (N17fs +2 more)	Deletion (frameshift variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 932936	GRCh37/hg19 2q24.2(chr2:161561653-163178787)	DPP4, FAP +6 more	Copy number loss	Autistic behavior +1 more	GLikely pathogenic
Select item 897229	NM_006031.6(PCNT):c.1542C>T (p.Ser514=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 856320	NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs)	PAX6 (D104fs +2 more)	Duplication (frameshift variant +3 more)	Aniridia 1 +1 more	GPathogenic/Likely pathogenic
Select item 802251	NM_020320.5(RARS2):c.-2A>G	RARS2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 666431	NM_001042432.2(CLN3):c.460+376_677+388del	CLN3	Deletion (splice acceptor variant +1 more)	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 666364	NM_005262.3(GFER):c.259-25_259-24del	GFER	Deletion (intron variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GLikely pathogenic
Select item 666353	NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)	NGLY1 (H494fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 666352	NM_001267550.2(TTN):c.56347+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	TTN-related disorder +3 more	GLikely pathogenic
Select item 666351	NM_001267550.2(TTN):c.56648-1G>A	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Early-onset myopathy with fatal cardiomyopathy +3 more	GLikely pathogenic
Select item 666350	NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)	MAN2B1 (T955fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 666347	NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)	SH3TC2 (Q811*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4C	GLikely pathogenic
Select item 666344	NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)	CUL4B (R288* +3 more)	Single nucleotide variant (nonsense)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 666343	NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)	SLC16A2 (G147R)	Single nucleotide variant (missense variant)	Allan-Herndon-Dudley syndrome	GPathogenic
Select item 666341	NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro)	DDX3X (R280P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 666340	NM_001356.5(DDX3X):c.833dup (p.Leu278fs)	DDX3X (L262fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 666339	NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys)	KDM5C (W555C +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 666336	NM_005584.5(MAB21L1):c.737dup (p.Cys246fs)	MAB21L1, NBEA (C246fs)	Duplication (frameshift variant +1 more)	Hypoplasia of scrotum	GLikely pathogenic
Select item 666332	NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)	ST3GAL5 (G219D +4 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +1 more	GLikely pathogenic
Select item 666331	NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter)	HPS3 (Q600* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 666330	NM_015426.5(POC1A):c.253G>C (p.Val85Leu)	POC1A (V47L +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 666329	NM_003124.5(SPR):c.18_19insGGGCGGGCTG (p.Arg7fs)	LOC129934069, SPR (R7fs)	Insertion (frameshift variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GLikely pathogenic
Select item 666328	NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu)	TAF2 (P844L)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 666320	NM_000193.4(SHH):c.1102G>T (p.Glu368Ter)	SHH (E368*)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, isolated, with coloboma 5	GLikely pathogenic
Select item 666319	NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly)	LMX1B (R249G)	Single nucleotide variant (missense variant)	Nail-patella syndrome	GLikely pathogenic
Select item 666318	NM_020297.4(ABCC9):c.1703C>T (p.Pro568Leu)	ABCC9 (P568L +1 more)	Single nucleotide variant (missense variant)	Hypertrichotic osteochondrodysplasia Cantu type	GLikely pathogenic
Select item 666317	NM_001372076.1(PAX9):c.51C>G (p.Asn17Lys)	PAX9 (N17K)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 666316	NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala)	KCNA2 (V408A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 666313	NM_001083962.2(TCF4):c.1710G>C (p.Arg570Ser)	TCF4 (R436S +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 666299	NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs)	NSD1 (E1244fs +1 more)	Insertion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 666298	NM_004959.5(NR5A1):c.990G>A (p.Glu330=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 3 +1 more	GLikely pathogenic
Select item 666297	NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg)	GNAO1 (G40R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GLikely pathogenic
Select item 666296	NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)	DYNC1H1 (L196W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely pathogenic
Select item 666295	NM_015338.6(ASXL1):c.3769del (p.Ala1257fs)	ASXL1 (A1196fs +1 more)	Deletion (frameshift variant)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 666294	NM_001080517.3(SETD5):c.988A>G (p.Lys330Glu)	SETD5 (K232E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 666292	NM_001170629.2(CHD8):c.5534_5543del (p.Lys1845fs)	CHD8 (K1845fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 666291	NM_003042.4(SLC6A1):c.1528-1G>C	SLC6A1	Single nucleotide variant (splice acceptor variant)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 666290	NM_005654.6(NR2F1):c.289C>T (p.His97Tyr)	NR2F1, NR2F1-AS1 (H97Y)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GLikely pathogenic
Select item 666289	NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)	SLC2A1 (N34K)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
Select item 666288	NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter)	KMT2A (R1633* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 666287	NM_001904.4(CTNNB1):c.2273del (p.His758fs)	CTNNB1 (H751fs +1 more)	Deletion (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GLikely pathogenic
Select item 666286	NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)	ARID1B (H806fs +1 more)	Deletion (5 prime UTR variant +1 more)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 666285	NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)	ARID1B (Y683fs +1 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 627550	NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)	TBL1XR1 (Y446H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 599204	NM_078480.3(PUF60):c.24+1G>C	LOC126860549, PUF60	Single nucleotide variant (splice donor variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 589324	NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)	ZEB2 (Y652* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +1 more	GPathogenic
Select item 561208	NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	THOC6 (G190E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 551774	NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)	PKHD1 (E1841K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 523686	Single allele	LY75-CD302, MARCHF7 +19 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 489045	NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter)	PAX6 (C177* +8 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 488988	NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)	TCF4 (R576* +21 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 487514	NM_001031710.3(KLHL7):c.618+1G>A	KLHL7	Single nucleotide variant (splice donor variant)	Distal arthrogryposis +1 more	GLikely pathogenic
Select item 478166	NM_000540.3(RYR1):c.1186_1187inv (p.Glu396Ser)	RYR1 (E396S)	Inversion (missense variant)	not specified +1 more	GUncertain significance
Select item 436895	NM_001032221.6(STXBP1):c.635A>G (p.Tyr212Cys)	STXBP1 (Y212C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 436894	NM_001032221.6(STXBP1):c.87+2T>C	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 435778	NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)	LMNA (E385del +2 more)	Microsatellite (inframe_deletion)	Muscular dystrophy	GLikely pathogenic
Select item 435777	NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)	LMNA	Deletion (inframe_deletion)	Muscular dystrophy	GPathogenic
Select item 435776	NM_170707.4(LMNA):c.790_792del (p.Glu264del)	LMNA (E264del +2 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 435775	NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)	LMNA, LOC126805877	Deletion (inframe_indel)	Muscular dystrophy	GLikely pathogenic
Select item 435774	NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)	LMNA (D566N +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 435773	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA (L530F +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 435772	NM_170707.4(LMNA):c.1235G>A (p.Gly412Glu)	LMNA (G412E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435771	NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)	LMNA (R388P +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy	GLikely pathogenic
Select item 435770	NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)	LMNA (I373F +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 435769	NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)	LMNA (A278P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 435768	NM_170707.4(LMNA):c.513+12C>A	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 434447	NM_000052.7(ATP7A):c.3295-12_3295-3del	ATP7A	Deletion (intron variant)	not specified	GUncertain significance
Select item 434399	NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs)	ARX (V512fs)	Indel (frameshift variant)	Hydranencephaly with abnormal genitalia	GPathogenic
Select item 426503	NM_024577.4(SH3TC2):c.3676-8G>A	SH3TC2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 424394	NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)	GABRA1 (E403Q)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +4 more	GUncertain significance
Select item 418939	NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)	ANKRD11 (Y1028*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 384329	NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)	TUBB3 (E216K +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 1 +1 more	GPathogenic/Likely pathogenic
Select item 374847	NM_001278512.2(AP3B2):c.1110+1G>C	AP3B2, CPEB1-AS1	Single nucleotide variant (splice donor variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 372920	NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)	KMT2A (C1155Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 328281	NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	MAN2B1 (R140*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 296015	NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	COQ8A (R271C)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GPathogenic/Likely pathogenic
Select item 280924	NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)	EEF1A2 (E124K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 280323	NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter)	TSC2 (E399* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 253261	NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)	DNM1L (G362D +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 245950	NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)	LMNA (L306P +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +1 more	GLikely pathogenic
Select item 236259	NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)	NAA10 (F128I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 234465	NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)	ASPM (E385fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Abnormal brainstem MRI signal intensity +12 more	GPathogenic/Likely pathogenic
Select item 221979	NM_000202.7(IDS):c.-217_103del320	IDS, LOC130068781	Deletion	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221978	NM_000202.8(IDS):c.1006+1G>T	IDS, LOC106050102	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221977	NM_000202.8(IDS):c.508-1G>C	IDS, LOC106050102	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221976	NM_000202.8(IDS):c.1463del (p.Met488fs)	IDS (M398fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221975	NM_000202.8(IDS):c.1132_1133del (p.Phe378fs)	IDS, LOC106050102 (F288fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221974	NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer)	LOC106050102, IDS	Deletion (nonsense +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221973	NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs)	LOC106050102, IDS (F155fs +1 more)	Indel (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 221972	NM_000202.8(IDS):c.1025A>C (p.His342Pro)	IDS, LOC106050102 (H342P +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 221971	NM_000202.8(IDS):c.1003C>T (p.His335Tyr)	IDS, LOC106050102 (H335Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic

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