p.G340S[varname] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1196942	NM_001852.4(COL9A2):c.1018G>A (p.Gly340Ser)	COL9A2 (G340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3166475	NM_015327.3(SMG5):c.1216G>A (p.Gly406Ser)	SMG5 (G406S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362060	NM_020407.5(RHBG):c.1225G>A (p.Gly409Ser)	RHBG (G340S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3028348	NM_201253.3(CRB1):c.1225G>A (p.Gly409Ser)	CRB1 (G297S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1712838	NM_022893.4(BCL11A):c.1351G>A (p.Gly451Ser)	BCL11A (G120S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2334456	NM_001381.5(DOK1):c.1435G>A (p.Gly479Ser)	DOK1 (G340S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 959578	NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser)	BIN1 (G340S +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2203610	NM_001077525.3(MTMR14):c.1879G>A (p.Gly627Ser)	MTMR14 (G288S +27 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2371532	NM_022461.5(AZI2):c.1018G>A (p.Gly340Ser)	AZI2, CMC1 (G340S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1057922	NM_004656.4(BAP1):c.1018G>A (p.Gly340Ser)	BAP1 (G340S)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 545641	NM_052859.4(RFT1):c.1018G>A (p.Gly340Ser)	RFT1 (G340S)	Single nucleotide variant (missense variant)	RFT1 related CDG +1 more	GUncertain significance
Select item 1352098	NM_001312673.2(PCYT1A):c.1018G>A (p.Gly340Ser)	PCYT1A (G340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025628	NM_001447.3(FAT2):c.1018G>A (p.Gly340Ser)	FAT2 (G340S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 391563	NM_145649.5(GCNT2):c.1018G>A (p.Gly340Ser)	GCNT2 (G338S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2600583	NM_001370687.1(TCP11):c.1033G>A (p.Gly345Ser)	TCP11 (G144S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2083540	NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)	FANCE (G340S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 1378996	NM_001130965.3(SUN1):c.934G>A (p.Gly312Ser)	SUN1 (G159S +44 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2408028	NM_000501.4(ELN):c.1018G>A (p.Gly340Ser)	ELN (G296S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393359	NM_000501.4(ELN):c.1033G>A (p.Gly345Ser)	ELN (G335S +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 1683593	NM_000089.4(COL1A2):c.1018G>A (p.Gly340Ser)	COL1A2 (G340S)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GLikely pathogenic
Select item 3315492	NM_015169.4(RRS1):c.1018G>A (p.Gly340Ser)	RRS1 (G340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281246	NM_175634.3(RUNX1T1):c.841G>A (p.Gly281Ser)	RUNX1T1 (G254S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2821406	NM_004519.4(KCNQ3):c.1018G>A (p.Gly340Ser)	KCNQ3 (G340S +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures	GUncertain significance
Select item 2714918	NM_004260.4(RECQL4):c.2287G>A (p.Gly763Ser)	RECQL4 (G384S +11 more)	Single nucleotide variant (missense variant +2 more)	Baller-Gerold syndrome	GUncertain significance
Select item 2461677	NM_001145313.3(FSD1L):c.1084G>A (p.Gly362Ser)	FSD1L (G341S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194662	NM_145011.4(ZNF25):c.1126G>A (p.Gly376Ser)	ZNF25 (G340S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2131587	NM_020975.6(RET):c.1147G>A (p.Gly383Ser)	RET (G53S +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 1907057	NM_001195263.2(PDZD7):c.1018G>A (p.Gly340Ser)	PDZD7 (G340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3106885	NM_000613.3(HPX):c.1018G>A (p.Gly340Ser)	HPX (G340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1313933	NM_001931.5(DLAT):c.1144G>A (p.Gly382Ser)	DLAT (G228S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2385114	NM_019844.4(SLCO1B3):c.1102G>A (p.Gly368Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (G368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 967484	NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)	ATP7B (G340S +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 963117	NM_020366.4(RPGRIP1):c.2932G>A (p.Gly978Ser)	RPGRIP1 (G138S +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1397350	NM_013382.7(POMT2):c.1018G>A (p.Gly340Ser)	POMT2 (G340S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 1681995	NM_152328.5(ADSS1):c.1018G>A (p.Gly340Ser)	ADSS1 (G135S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214115	NM_178034.4(PLA2G4D):c.1018G>A (p.Gly340Ser)	PLA2G4D (G340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190484	NM_053284.3(WFIKKN1):c.1018G>A (p.Gly340Ser)	WFIKKN1 (G340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608695	NM_018723.4(RBFOX1):c.889G>A (p.Gly297Ser)	RBFOX1 (G299S +21 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1943122	NM_001793.6(CDH3):c.1183G>A (p.Gly395Ser)	CDH3 (G340S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516557	NM_032382.5(COG8):c.1018G>A (p.Gly340Ser)	COG8 (G340S)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2862710	NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)	GALNS (G346S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 1801956	NM_001130021.3(ATP6V0A1):c.1231G>A (p.Gly411Ser)	ATP6V0A1 (G340S +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2282198	NM_019020.4(TBC1D16):c.1018G>A (p.Gly340Ser)	TBC1D16 (G340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 455977	NM_182978.4(GNAL):c.1249G>A (p.Gly417Ser)	GNAL (G340S +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 1483049	NM_001367823.1(ARHGEF18):c.1744G>A (p.Gly582Ser)	ARHGEF18 (G236S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 239917	NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser)	CEBPA (G340S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 2391434	NM_005357.4(LIPE):c.1018G>A (p.Gly340Ser)	LIPE, LIPE-AS1 (G39S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683506	NM_001039213.4(CEACAM16):c.1018G>A (p.Gly340Ser)	CEACAM16-AS1, CEACAM16 (G340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221701	NM_017908.4(ZNF446):c.1018G>A (p.Gly340Ser)	ZNF446 (G340S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1256558	NM_175914.5(HNF4A):c.1018G>A (p.Gly340Ser)	HNF4A (G337S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041496	NM_004994.3(MMP9):c.1018G>A (p.Gly340Ser)	MMP9 (G340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520174	NM_030777.4(SLC2A10):c.1018G>A (p.Gly340Ser)	SLC2A10 (G340S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2394865	NM_001282531.3(ADNP):c.1018G>A (p.Gly340Ser)	ADNP (G340S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2147436	NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser)	SALL4 (G340S)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GLikely benign
Select item 711514	NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser)	RTEL1, RTEL1-TNFRSF6B (G340S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 587976	NM_001347721.2(DYRK1A):c.1105G>A (p.Gly369Ser)	DYRK1A (G378S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1514207	NM_001379500.1(COL18A1):c.478G>A (p.Gly160Ser)	COL18A1 (G160S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273446	NM_000675.6(ADORA2A):c.1018G>A (p.Gly340Ser)	ADORA2A, ADORA2A-AS1 +1 more (G340S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2430921	NM_006306.4(SMC1A):c.1084G>A (p.Gly362Ser)	SMC1A (G340S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391593	NM_001353921.2(ARHGEF9):c.1018G>A (p.Gly340Ser)	ARHGEF9 (G333S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126914	NM_000202.8(IDS):c.1018G>A (p.Gly340Ser)	IDS, LOC106050102 (G250S +1 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-II	GUncertain significance
Select item 3104366	NM_001385482.1(HAUS7):c.1018G>A (p.Gly340Ser)	HAUS7 (G399S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 62