ClinVar (all) for Orgtrack (Select 506385) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340142	NM_017917.4(PPP2R3C):c.841del (p.Gln281fs)	LOC101927178, PPP2R3C (Q171fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 36	GUncertain significance
Select item 3338694	NM_001042492.3(NF1):c.1417_1418insG (p.Thr473fs)	NF1 (T473fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3338664	NM_006269.2(RP1):c.2102_2103del (p.Arg701fs)	RP1 (R701fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 1	GPathogenic
Select item 3338319	NM_001384140.1(PCDH15):c.[3661C>T];[3717+1G>A]			Autosomal recessive nonsyndromic hearing loss 23	GPathogenic
Select item 3338318	NM_001256789.3(CACNA1F):c.3500del (p.Pro1167fs)	CACNA1F (P1113fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GPathogenic
Select item 3338060	NM_182961.4(SYNE1):c.1903dup (p.Met635fs)	SYNE1 (M635fs +1 more)	Duplication (frameshift variant)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 3338057	NM_001070.5(TUBG1):c.664A>C (p.Asn222His)	RETREG3, TUBG1 (N222H)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 3338019	NM_206933.4(USH2A):c.1546G>A (p.Gly516Arg)	USH2A (G516R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3337997	NM_015559.3(SETBP1):c.2762del (p.His921fs)	SETBP1 (H921fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 29	GPathogenic
Select item 3337996	NM_001142800.2(EYS):c.7923del (p.Gly2642fs)	EYS (G2642fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 3337984	NM_006946.4(SPTBN2):c.1615G>A (p.Asp539Asn)	SPTBN2 (D539N +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 3337983	NM_001042492.3(NF1):c.1929_1948del (p.Met643fs)	NF1 (M643fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3337982	NM_006017.3(PROM1):c.914dup (p.Leu306fs)	PROM1 (L297fs +1 more)	Duplication (frameshift variant)	Cone-rod dystrophy 12	GPathogenic
Select item 3336852	NM_001163692.2(UBAP1L):c.120+1G>T	UBAP1L	Single nucleotide variant (splice donor variant)	Isolated macular dystrophy	GLikely pathogenic
Select item 3336822	NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)	CACNA1A (L1747fs +3 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 42	GPathogenic
Select item 3336810	NM_001042492.3(NF1):c.1548del (p.Glu517fs)	NF1 (E517fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3336608	NM_001256317.3(TMPRSS3):c.383T>C (p.Met128Thr)	TMPRSS3 (M128T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8	GUncertain significance
Select item 3336607	NM_016239.4(MYO15A):c.[6580C>T];[7124_7127del]			Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 3335929	NM_001009944.3(PKD1):c.11412-2A>G	MIR1225, PKD1 +2 more	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3258069	NM_001298.3(CNGA3):c.1231del (p.Ala411fs)	CNGA3 (A411fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GPathogenic
Select item 3257722	NM_007327.4(GRIN1):c.1904T>C (p.Val635Ala)	GRIN1 (V656A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GLikely pathogenic
Select item 3257721	NM_172107.4(KCNQ2):c.816+2T>C	KCNQ2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 7	GLikely pathogenic
Select item 3256913	NM_003482.4(KMT2D):c.13670A>C (p.Gln4557Pro)	KMT2D (Q4557P)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 3256713	NM_000260.4(MYO7A):c.1973del (p.Tyr658fs)	MYO7A (Y647fs +1 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 3256156	NM_001904.4(CTNNB1):c.1642C>T (p.Gln548Ter)	CTNNB1, LOC126806659 (Q541* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 3255468	NM_058172.6(ANTXR2):c.[1073dup];[1074del]			Hyaline fibromatosis syndrome	GPathogenic
Select item 3255228	NM_013275.6(ANKRD11):c.7323C>G (p.Tyr2441Ter)	ANKRD11 (Y2441*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 3253623	NM_014271.4(IL1RAPL1):c.1743_1744del (p.Phe581fs)	IL1RAPL1 (F581fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 21	GLikely pathogenic
Select item 3252102	NM_000263.4(NAGLU):c.[2020C>T];[680A>C]			Mucopolysaccharidosis, MPS-III-B	GLikely pathogenic
Select item 3252095	NM_006612.6(KIF1C):c.2885_2895del (p.Leu962fs)	KIF1C (L962fs)	Deletion (frameshift variant)	Spastic ataxia 2	GLikely pathogenic
Select item 3252094	NM_000088.4(COL1A1):c.299-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3250483	NM_002335.4(LRP5):c.3915C>A (p.Cys1305Ter)	LRP5 (C1305* +1 more)	Single nucleotide variant (nonsense)	Exudative vitreoretinopathy 4	GPathogenic
Select item 3250363	NM_000314.8(PTEN):c.226dup (p.Tyr76fs)	PTEN (Y249fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly-autism syndrome	GPathogenic
Select item 3250362	NM_002816.5(PSMD12):c.686T>G (p.Leu229Ter)	PSMD12 (L170* +2 more)	Single nucleotide variant (nonsense)	Stankiewicz-Isidor syndrome	GPathogenic
Select item 3250360	NM_001282874.2(SMARCA1):c.193C>T (p.Gln65Ter)	SMARCA1 (Q65*)	Single nucleotide variant (nonsense)	Non-syndromic X-linked intellectual disability	GLikely pathogenic
Select item 3250359	NM_001282874.2(SMARCA1):c.413T>G (p.Leu138Ter)	SMARCA1 (L138*)	Single nucleotide variant (nonsense)	Non-syndromic X-linked intellectual disability	GLikely pathogenic
Select item 3250358	NM_004928.3(CFAP410):c.78-1G>T	CFAP410	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy with or without macular staphyloma	GLikely pathogenic
Select item 3249845	NM_001034853.2(RPGR):c.3364del (p.Met1122fs)	RPGR (M1122fs)	Deletion (frameshift variant +1 more)	X-linked cone-rod dystrophy 1	GPathogenic
Select item 3248637	NM_001614.5(ACTG1):c.946G>A (p.Glu316Lys)	ACTG1 (E316K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20	GUncertain significance
Select item 3248566	NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter)	SCN5A (Q660*)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome 1	GPathogenic
Select item 3248565	NM_001034853.2(RPGR):c.843dup (p.Glu282Ter)	RPGR (E281* +2 more)	Duplication (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 3248551	NM_004181.5(UCHL1):c.149T>C (p.Leu50Pro)	UCHL1, UCHL1-DT (L50P)	Single nucleotide variant (missense variant)	Spastic paraplegia 79A, autosomal dominant, with ataxia	GUncertain significance
Select item 3248542	NM_003620.4(PPM1D):c.1305_1308dup (p.Pro437fs)	PPM1D (P437fs)	Microsatellite (frameshift variant)	Autosomal dominant non-syndromic intellectual disability	GPathogenic
Select item 3248541	NM_000283.4(PDE6B):c.2503+2T>C	ATP5ME, PDE6B	Single nucleotide variant (splice donor variant +1 more)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 3242598	NM_001375380.1(EBF3):c.347dup (p.Tyr116Ter)	EBF3 (Y116*)	Duplication (nonsense)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 3242597	NM_001197104.2(KMT2A):c.8874del (p.Glu2960fs)	KMT2A (E2957fs +2 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3242447	NM_006593.4(TBR1):c.163dup (p.Ile55fs)	TBR1 (I55fs)	Duplication (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 3242446	NM_015898.4(ZBTB7A):c.424C>T (p.Gln142Ter)	ZBTB7A (Q142*)	Single nucleotide variant (nonsense)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GUncertain significance
Select item 3242445	GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3	ACP6, BCL9 +62 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 3242432	NM_000257.4(MYH7):c.4943del (p.Ser1648fs)	LOC126861897, MHRT +2 more (S1648fs)	Deletion (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 3242415	NM_001330260.2(SCN8A):c.4922T>C (p.Leu1641Pro)	SCN8A (L1600P +1 more)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 3242344	NM_000321.3(RB1):c.1212del (p.Phe404fs)	RB1 (F404fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 3242240	NM_015021.3(ZNF292):c.4196_4197insAA (p.Tyr1399Ter)	ZNF292 (Y1259* +1 more)	Insertion (nonsense)	Autosomal dominant non-syndromic intellectual disability	GLikely pathogenic
Select item 3241973	NM_001267550.2(TTN):c.106070_106071del (p.Tyr35357fs)	LOC129935182, TTN +1 more (Y26292fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GPathogenic
Select item 3238616	NM_020706.2(SCAF4):c.1471C>T (p.Arg491Ter)	SCAF4 (R476* +1 more)	Single nucleotide variant (nonsense)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 3237371	NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)	NR2F1	Deletion (nonsense)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 3237370	NM_000440.3(PDE6A):c.1927-1G>C	PDE6A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 3237340	NM_000875.5(IGF1R):c.2477_2480dup (p.Glu829fs)	IGF1R (E829fs)	Duplication (frameshift variant)	Growth delay due to insulin-like growth factor I resistance	GPathogenic
Select item 3237337	NM_052867.4(NALCN):c.951T>G (p.Phe317Leu)	NALCN (F317L)	Single nucleotide variant (missense variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay	GLikely pathogenic
Select item 3237336	NM_004183.4(BEST1):c.1101-491A>G	BEST1, FTH1	Single nucleotide variant (intron variant)	Autosomal recessive bestrophinopathy	GLikely pathogenic
Select item 3236844	GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	ABHD11, ABHD11-AS1 +130 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 3236702	NM_002700.3(POU4F3):c.823_842del (p.Lys275fs)	LOC127814297, POU4F3 (K275fs)	Deletion (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 3236653	NM_000214.3(JAG1):c.1729_1732dup (p.Cys578Ter)	JAG1, MIR6870 (C578*)	Duplication (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 3236268	NM_015355.4(SUZ12):c.1603C>T (p.Arg535Ter)	SUZ12 (R512* +1 more)	Single nucleotide variant (nonsense)	Imagawa-Matsumoto syndrome	GLikely pathogenic
Select item 3235694	NM_134261.3(RORA):c.274G>A (p.Gly92Ser)	RORA, RORA-AS1 (G117S +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
Select item 3235266	NM_006767.4(LZTR1):c.102C>A (p.Cys34Ter)	LOC130067016, LZTR1 (C34*)	Single nucleotide variant (nonsense)	Familial multiple meningioma	GLikely pathogenic
Select item 3235264	NM_004984.4(KIF5A):c.806T>C (p.Leu269Pro)	KIF5A (L180P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 3233449	NM_001694.4(ATP6V0C):c.283G>A (p.Ala95Thr)	AMDHD2, ATP6V0C (A95T)	Single nucleotide variant (missense variant)	Childhood-onset epilepsy syndrome	GLikely pathogenic
Select item 3220872	NM_001377295.2(GNAT2):c.874+1G>T	GNAI3, GNAT2 +1 more	Single nucleotide variant (splice donor variant)	Achromatopsia 4	GLikely pathogenic
Select item 3148956	NM_001009944.3(PKD1):c.796C>T (p.Gln266Ter)	PKD1 (Q266*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3076211	NM_006015.6(ARID1A):c.476dup (p.Ala160fs)	ARID1A (A160fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 3075672	NM_001386298.1(CIC):c.1027del (p.Trp343fs)	CIC (W343fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 45	GPathogenic
Select item 3075671	NM_003242.6(TGFBR2):c.1241_1254+1del	TGFBR2	Deletion (splice donor variant +1 more)	Loeys-Dietz syndrome 2	GLikely pathogenic
Select item 3075660	NM_001135649.3(FOXI3):c.596T>G (p.Leu199Arg)	FOXI3 (L199R)	Single nucleotide variant (missense variant)	Craniofacial microsomia 2	GLikely pathogenic
Select item 3069208	NM_000548.5(TSC2):c.4908_4912del (p.Asp1636fs)	TSC2 (D1035fs +34 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis syndrome	GPathogenic
Select item 3069178	NM_145261.4(DNAJC19):c.102del (p.Lys34fs)	DNAJC19 (K34fs +1 more)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria type 5	GPathogenic
Select item 3069150	NM_006088.6(TUBB4B):c.928T>C (p.Tyr310His)	TUBB4B (Y310H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis with early-onset deafness	GUncertain significance
Select item 3069149	NM_006088.6(TUBB4B):c.1168C>T (p.Arg390Trp)	TUBB4B (R390W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis with early-onset deafness	GUncertain significance
Select item 3069148	NM_006088.6(TUBB4B):c.1169G>A (p.Arg390Gln)	TUBB4B (R390Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis with early-onset deafness	GUncertain significance
Select item 3067139	NM_021937.5(EEFSEC):c.1751_1752dup (p.Val585fs)	EEFSEC (V585fs)	Duplication (frameshift variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GLikely pathogenic
Select item 3067138	NM_021937.5(EEFSEC):c.1169A>C (p.Asp390Ala)	EEFSEC (D390A)	Single nucleotide variant (missense variant)	Autosomal recessive non-syndromic intellectual disability	GLikely pathogenic
Select item 3066463	NM_020791.4(TAOK1):c.557C>T (p.Pro186Leu)	TAOK1 (P186L)	Single nucleotide variant (missense variant)	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 3066391	NM_000240.4(MAOA):c.1433C>G (p.Ser478Ter)	MAOA (S345* +1 more)	Single nucleotide variant (nonsense)	Brunner syndrome	GUncertain significance
Select item 3066069	NM_001371904.1(APOA5):c.681C>A (p.Cys227Ter)	APOA5, ZPR1 (C227*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia 1	GLikely pathogenic
Select item 3062359	NM_024426.6(WT1):c.1032C>G (p.Tyr344Ter)	WT1 (Y110* +9 more)	Single nucleotide variant (nonsense +2 more)	Nephroblastoma	GPathogenic
Select item 3062356	NM_001042492.3(NF1):c.5301del (p.Glu1768fs)	NF1 (E1747fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3062223	NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)	CACNA1A (R1025fs +2 more)	Duplication (frameshift variant)	Episodic ataxia type 2	GPathogenic
Select item 3062221	NM_006922.4(SCN3A):c.1945dup (p.Asp649fs)	SCN3A (D649fs)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 62	GPathogenic
Select item 3062186	NM_020988.3(GNAO1):c.945_954del (p.Asn316fs)	GNAO1 (N316fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with involuntary movements	GUncertain significance
Select item 3062185	NM_005861.4(STUB1):c.669+2T>C	JMJD8, RHBDL1 +2 more	Single nucleotide variant (3 prime UTR variant +2 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 3062016	NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro)	GATA3 (L273P +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GLikely pathogenic
Select item 3061962	NM_000051.4(ATM):c.147_148insG (p.Lys50fs)	ATM (K50fs)	Insertion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 3027509	NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg)	CACNA1C (P244R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 3027497	NM_205850.3(SLC24A5):c.301+1G>T	SLC24A5	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism type 6	GLikely pathogenic
Select item 3024556	NM_173477.5(USH1G):c.1382+2_1382+3del	OTOP2, USH1G	Microsatellite (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 3024357	NM_012330.4(KAT6B):c.3373-1G>A	KAT6B	Single nucleotide variant (splice acceptor variant)	Genitopatellar syndrome	GLikely pathogenic
Select item 3024347	NM_001003694.2(BRPF1):c.2844dup (p.Lys949fs)	BRPF1 (K942fs +3 more)	Duplication (frameshift variant +2 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 3024345	NM_003361.4(UMOD):c.688T>A (p.Trp230Arg)	UMOD (W230R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GLikely pathogenic
Select item 3024211	NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)	B3GALNT2 (A101P +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 3024173	NM_001080517.3(SETD5):c.3512C>G (p.Ser1171Ter)	SETD5 (S1073* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic

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