Croton webster - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 48

The following term was not found in ClinVar: Croton.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 236144	NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)	ABCA4 (L2026P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 7892	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	ABCA4 (L1970F +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 99350	NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)	ABCA4 (L1729P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 99343	NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	ABCA4 (V1693I +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +4 more	GConflicting classifications of pathogenicity
Select item 99329	NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)	ABCA4, LOC126805793 (A1637T +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 99284	NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	ABCA4 (C1488R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +5 more	GPathogenic/Likely pathogenic
Select item 99274	NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)	ABCA4 (V1433I +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 99196	NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	ABCA4 (E1022K +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +3 more	GPathogenic/Likely pathogenic
Select item 99194	NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)	ABCA4 (T1019A +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 99191	NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)	ABCA4 (L1014R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99173	NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)	ABCA4 (T971N +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99149	NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu)	ABCA4 (F873L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 236518	NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn)	ABCA4 (Y856N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 99141	NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)	ABCA4 (V849A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 99136	NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)	ABCA4 (W821R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 99125	NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)	ABCA4 (S765N)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99119	NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met)	ABCA4 (T716M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 99085	NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)	ABCA4 (R602Q)	Single nucleotide variant (missense variant)	ABCA4-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	Stargardt disease +6 more	GPathogenic/Likely pathogenic
Select item 99033	NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	ABCA4 (N380K)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 99434	NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)	ABCA4 (S206R)	Single nucleotide variant (missense variant)	ABCA4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 99405	NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr)	ABCA4 (A192T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 18384	NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu)	CHRNA1 (F276L +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 1B, fast-channel	GPathogenic
Select item 182979	NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	VHL (L89P)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2238	NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	LOC107303340, VHL (Q164R +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 625261	NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	LOC107303340, VHL (L178R +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 67661	NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala)	SCN5A (E462A)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 67636	NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met)	SCN5A (T370M)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	Connective tissue disorder +18 more	GPathogenic/Likely pathogenic
Select item 16331	NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	FGFR3 (K650E +3 more)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1 +3 more	GPathogenic
Select item 242322	NM_017934.7(PHIP):c.779del (p.Leu260fs)	PHIP (L260fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 242321	NM_017934.7(PHIP):c.50T>C (p.Phe17Ser)	PHIP (F17S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2124183	NM_017934.7(PHIP):c.40+1del	LOC129996745, PHIP	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 625874	NC_000006.12:g.99598907A>C	LOC111365204	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic
Select item 625875	NC_000006.12:g.99598928T>C	LOC111365204	Single nucleotide variant	Progressive bifocal chorioretinal atrophy	GPathogenic
Select item 14443	NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)	KCNH2 (A573V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 5636	NM_012203.2(GRHPR):c.103del (p.Asp35fs)	GRHPR (D35fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 5637	NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)	GRHPR (R99*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204250	NM_012203.2(GRHPR):c.404+3_404+6del	GRHPR	Microsatellite (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204235	NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	GRHPR (G165D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +2 more	GPathogenic
Select item 204244	NM_012203.2(GRHPR):c.735-1G>A	GRHPR	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 392431	NM_000218.3(KCNQ1):c.1589A>C (p.Gln530Pro)	KCNQ1 (Q403P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 372325	NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	C17orf107, CHRNE (P302R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 282036	NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)	C17orf107, CHRNE (Y35H)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +5 more	GPathogenic/Likely pathogenic
Select item 16775	NM_000234.3(LIG1):c.1696G>A (p.Glu566Lys)	LIG1 (E566K +4 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 96	GPathogenic
Select item 280509	NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)	NEXMIF (R481*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type +2 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48