C3661900[trait identifier] AND "Richard Lifton Laboratory, Yale Univer - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100863	NM_015506.3(MMACHC):c.649G>T (p.Glu217Ter)	LOC129930446, MMACHC (E217* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 91998	NM_018061.4(PRPF38B):c.1463G>A (p.Arg488Gln)	PRPF38B (R488Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100855	NM_001253852.3(AP4B1):c.165G>A (p.Lys55=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 91961	NM_005060.4(RORC):c.422C>T (p.Ala141Val)	RORC (A141V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 100897	NM_207197.3(ADAM15):c.2307C>T (p.Pro769=)	ADAM15, ADAM15-EFNA4 +1 more (P745L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 100891	NM_152281.3(GORAB):c.954G>C (p.Val318=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 100838	NM_002293.4(LAMC1):c.814T>C (p.Ser272Pro)	LAMC1 (S272P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92021	NM_052966.4(NIBAN1):c.2201C>T (p.Thr734Met)	NIBAN1 (T734M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100880	NM_031935.3(HMCN1):c.4673C>A (p.Ser1558Ter)	HMCN1 (S1558*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 100881	NM_031935.3(HMCN1):c.6295C>T (p.Arg2099Ter)	HMCN1 (R2099*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 100807	NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu)	PKP1 (P400L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135632	NM_006618.5(KDM5B):c.1701+1G>A	KDM5B	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 100870	NM_018230.3(NUP133):c.3432G>C (p.Leu1144Phe)	NUP133 (L1144F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100890	NM_145861.4(EDARADD):c.587G>A (p.Arg196His)	EDARADD (R196H +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 100854	NM_006277.3(ITSN2):c.4732G>T (p.Ala1578Ser)	ITSN2 (A1578S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 143224	NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala)	NLRC4 (V341A)	Single nucleotide variant (intron variant +1 more)	Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) +3 more	GPathogenic
Select item 100848	NM_003896.4(ST3GAL5):c.714T>C (p.Thr238=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 100871	NM_001378120.1(MBD5):c.904A>G (p.Thr302Ala)	MBD5 (T302A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100876	NM_024753.5(TTC21B):c.2240A>G (p.Gln747Arg)	TTC21B (Q747R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100846	NM_003705.5(SLC25A12):c.1417C>T (p.Arg473Trp)	SLC25A12 (R473W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 56156	NM_014585.6(SLC40A1):c.473G>T (p.Trp158Leu)	SLC40A1 (W158L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100850	NM_005235.3(ERBB4):c.2706C>T (p.Asp902=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 17578	NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)	CTNNB1, LOC126806658 (D32G +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +10 more	GPathogenic/Likely pathogenic
Select item 17579	NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)	CTNNB1, LOC126806658 (S37C +1 more)	Single nucleotide variant (missense variant)	Neoplasm of ovary +11 more	GPathogenic/Likely pathogenic
Select item 17580	NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	CTNNB1, LOC126806658 (T41A +1 more)	Single nucleotide variant (missense variant)	Desmoid tumor	GLikely pathogenic
Select item 17589	NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)	CTNNB1, LOC126806658 (S45P +1 more)	Single nucleotide variant (missense variant)	Disease +10 more	GPathogenic/Likely pathogenic
Select item 100837	NM_001904.4(CTNNB1):c.723G>A (p.Val241=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 100862	NM_015340.4(LARS2):c.1584G>C (p.Trp528Cys)	LARS2, LARS2-AS1 (W528C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100868	NM_018031.6(WDR6):c.1957T>G (p.Cys653Gly)	WDR6 (C653G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100887	NM_052859.4(RFT1):c.1102G>A (p.Gly368Ser)	RFT1 (G368S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 66072	NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)	CACNA1D (G403D)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 100834	NM_001457.4(FLNB):c.7455C>A (p.Thr2485=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100844	NM_003571.4(BFSP2):c.861G>A (p.Arg287=)	BFSP2, BFSP2-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100893	NM_176824.3(BBS7):c.1135T>G (p.Phe379Val)	BBS7 (F379V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100860	NM_014476.6(PDLIM3):c.925C>T (p.Arg309Trp)	PDLIM3 (R309W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 100818	NM_001003841.3(SLC6A19):c.1540T>G (p.Phe514Val)	SLC6A19 (F514V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100894	NM_198253.3(TERT):c.2354C>A (p.Pro785Gln)	TERT (P785Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100812	NM_000439.5(PCSK1):c.700A>G (p.Lys234Glu)	LOC101929710, PCSK1 +1 more (K234E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30521	NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys)	KLHL3 (Y557C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30518	NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)	KLHL3 (R528H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 100530	NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val)	KLHL3 (A340V +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 100898	NM_213647.3(FGFR4):c.1684C>T (p.Leu562=)	FGFR4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100859	NM_014244.5(ADAMTS2):c.997G>A (p.Gly333Arg)	ADAMTS2 (G333R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 100825	NM_022113.6(KIF13A):c.2511T>C (p.Arg837=)	KIF13A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100845	NM_003630.3(PEX3):c.184C>A (p.Gln62Lys)	PEX3 (Q62K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100831	NM_001277115.2(DNAH11):c.4072G>A (p.Val1358Ile)	DNAH11 (V1358I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100813	NM_000466.3(PEX1):c.3645A>T (p.Glu1215Asp)	PEX1, GATAD1 (E1215D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100829	NM_001037132.4(NRCAM):c.3764T>G (p.Leu1255Arg)	NRCAM (L1162R +32 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 100842	NM_002851.3(PTPRZ1):c.663G>T (p.Leu221=)	PTPRZ1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100875	NM_022458.4(LMBR1):c.460C>A (p.Leu154Ile)	LMBR1 (L154I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 100847	NM_003844.4(TNFRSF10A):c.355G>A (p.Gly119Ser)	TNFRSF10A (G119S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100856	NM_001257180.2(SLC20A2):c.353T>C (p.Ile118Thr)	SLC20A2 (I118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 91957	NM_003995.4(NPR2):c.3048G>T (p.Gln1016His)	NPR2, SPAG8 (Q1016H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 100866	NM_017662.5(TRPM6):c.5600A>G (p.His1867Arg)	TRPM6 (H1867R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100826	NM_003011.4(SET):c.280G>C (p.Ala94Pro)	SET (A107P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100821	NM_001033855.3(DCLRE1C):c.1342A>G (p.Asn448Asp)	DCLRE1C (N448D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 100823	NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met)	CUBN (T1423M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100865	NM_017433.5(MYO3A):c.2845G>T (p.Val949Phe)	MYO3A (V949F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100802	NM_000043.6(FAS):c.785T>C (p.Ile262Thr)	FAS (I262T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 100810	NM_000392.5(ABCC2):c.2352A>G (p.Leu784=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100832	NM_001278.5(CHUK):c.1270C>G (p.Arg424Gly)	CHUK (R424G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100857	NM_001377530.1(DMBT1):c.1012T>C (p.Ser338Pro)	DMBT1 (S338P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100806	NM_000274.4(OAT):c.293T>C (p.Val98Ala)	OAT (V98A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 100819	NM_001375380.1(EBF3):c.534A>T (p.Ser178=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 91968	NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)	USH1C (S190L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 18A +2 more	GUncertain significance
Select item 100804	NM_001370259.2(MEN1):c.1747T>G (p.Ser583Ala)	MEN1 (S583A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 91915	NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)	KCNJ5 (G151R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 100885	NM_033033.4(KRT82):c.630G>C (p.Glu210Asp)	KRT82 (E210D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100835	NM_001780.6(CD63):c.486G>A (p.Lys162=)	CD63	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100843	NM_003153.5(STAT6):c.278T>G (p.Leu93Arg)	STAT6 (L93R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 92019	NM_032496.4(ARHGAP9):c.409C>T (p.Arg137Cys)	ARHGAP9 (R137C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100878	NM_025114.4(CEP290):c.1104C>T (p.Thr368=)	CEP290	Single nucleotide variant (synonymous variant)	CEP290-related disorder +3 more	GLikely benign
Select item 100872	NM_018451.5(CENPJ):c.3725G>A (p.Arg1242Lys)	CENPJ, RNF17 (R1242K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 100808	NM_000321.3(RB1):c.1960G>A (p.Val654Met)	RB1 (V654M)	Single nucleotide variant (missense variant)	Retinoblastoma	GPathogenic
Select item 100809	NM_000321.3(RB1):c.1994T>G (p.Leu665Arg)	RB1 (L665R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 100803	NM_000053.4(ATP7B):c.2672G>C (p.Gly891Ala)	ATP7B (G891A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100874	NM_020366.4(RPGRIP1):c.1978G>T (p.Asp660Tyr)	RPGRIP1 (D660Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 100839	NM_002471.4(MYH6):c.5036G>T (p.Arg1679Leu)	LOC126861896, MYH6 (R1679L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100882	NM_032632.5(PAPOLA):c.1464A>G (p.Val488=)	PAPOLA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100886	NM_033223.5(GABRG3):c.336A>G (p.Thr112=)	GABRG3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100805	NM_001382347.1(MYO5A):c.2573G>T (p.Arg858Leu)	MYO5A (R858L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100883	NM_032866.5(CGNL1):c.2322T>C (p.His774=)	CGNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 100884	NM_033028.5(BBS4):c.1316C>T (p.Pro439Leu)	BBS4 (P439L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 100841	NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala)	NEO1 (P979A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 91982	NM_014918.5(CHSY1):c.731G>A (p.Arg244Gln)	CHSY1 (R244Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189779	NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val)	CACNA1H (M1549V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 100830	NM_001270974.2(HYDIN):c.6449T>G (p.Val2150Gly)	HYDIN (V2150G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100896	NM_199355.4(ADAMTS18):c.1453T>A (p.Phe485Ile)	ADAMTS18 (F485I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100816	NM_000546.6(TP53):c.887A>G (p.His296Arg)	TP53 (H164R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 100815	NM_000546.6(TP53):c.736A>G (p.Met246Val)	TP53 (M114V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 100814	NM_000546.6(TP53):c.587G>T (p.Arg196Leu)	TP53 (R157L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 100869	NM_001143992.2(WRAP53):c.1510T>C (p.Ser504Pro)	WRAP53 (S504P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100840	NM_002472.3(MYH8):c.398G>T (p.Trp133Leu)	MYHAS, MYH8 (W133L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100828	NM_001146312.3(MYOCD):c.543C>T (p.Asp181=)	MYOCD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 100899	NM_213656.4(KRT39):c.1461A>C (p.Arg487Ser)	KRT39 (R487S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100822	NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr)	ATXN7L3-AS1, UBTF (D685Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 100811	NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)	ITGA2B (W266*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 135641	NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)	DGKE (W322*)	Single nucleotide variant (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more	GPathogenic
Select item 100852	NM_005968.5(HNRNPM):c.2129G>A (p.Arg710Gln)	HNRNPM (R710Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 91945	NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg)	PRKACA (L206R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2