c.97G>C[varname] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2224048	NM_152228.3(TAS1R3):c.97G>C (p.Gly33Arg)	TAS1R3 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229178	NM_015378.4(VPS13D):c.97G>C (p.Gly33Arg)	VPS13D (G33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251693	NM_000478.6(ALPL):c.97G>C (p.Ala33Pro)	ALPL (A33P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490730	NM_178548.4(TFAP2E):c.97G>C (p.Gly33Arg)	TFAP2E, TFAP2E-AS1 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385749	NM_001190880.3(HYI):c.97G>C (p.Glu33Gln)	HYI, LOC129930381 +1 more (E33Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1505674	NM_002979.5(SCP2):c.340G>C (p.Glu114Gln)	SCP2 (E33Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323985	NM_057176.3(BSND):c.97G>C (p.Val33Leu)	BSND (V33L)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GPathogenic/Likely pathogenic
Select item 1911641	NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)	LOC129930668, PGM1 (A33P)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2580071	NM_000748.3(CHRNB2):c.97G>C (p.Val33Leu)	CHRNB2 (V33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2391572	NM_018116.4(MSTO1):c.97G>C (p.Gly33Arg)	MSTO1 (G33R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2047580	NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)	LMNA, LOC129931597 (E33Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2678650	NM_003001.5(SDHC):c.256G>C (p.Gly86Arg)	SDHC (G126R +7 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3135077	NM_199051.3(BRINP3):c.97G>C (p.Ala33Pro)	BRINP3 (A33P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1163185	NM_172351.3(CD46):c.97G>C (p.Asp33His)	CD46, LOC129932405 (D33H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3299714	NM_002508.3(NID1):c.97G>C (p.Glu33Gln)	NID1 (E33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623466	NM_017865.4(ZNF692):c.97G>C (p.Gly33Arg)	ZNF692 (G33R +1 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 1503229	NM_015662.3(IFT172):c.97G>C (p.Val33Leu)	IFT172 (V33L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +1 more	GUncertain significance
Select item 3285944	NM_004304.5(ALK):c.97G>C (p.Ala33Pro)	ALK (A33P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2447909	NM_001743.6(CALM2):c.-2G>C	CALM2 (A33P)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2062833	NM_000179.3(MSH6):c.3250G>C (p.Asp1084His)	MSH6 (D1028H +13 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2260374	NM_023016.4(SOWAHC):c.97G>C (p.Glu33Gln)	RANBP2, SOWAHC (E33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 142436	NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)	BARD1 (A33P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1894	NM_015488.5(PNKD):c.97G>C (p.Ala33Pro)	PNKD (A33P)	Single nucleotide variant (missense variant)	Paroxysmal nonkinesigenic dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 864192	NM_152383.5(DIS3L2):c.97G>C (p.Gly33Arg)	DIS3L2 (G33R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2274358	NM_001126128.2(PROK2):c.97G>C (p.Ala33Pro)	PROK2 (A33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325431	NM_032359.4(CMSS1):c.97G>C (p.Glu33Gln)	CMSS1 (E15Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2118175	NM_001276270.2(MBD4):c.97G>C (p.Asp33His)	MBD4 (D33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2224213	NM_198504.4(PAQR9):c.97G>C (p.Ala33Pro)	PAQR9 (A33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1435327	NM_000203.5(IDUA):c.493G>C (p.Gly165Arg)	IDUA (G165R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 3030365	NM_015874.6(RBPJ):c.103G>C (p.Val35Leu)	LOC126807011, RBPJ (V13L +4 more)	Single nucleotide variant (missense variant)	RBPJ-related disorder	GUncertain significance
Select item 1800181	NM_139076.3(ABRAXAS1):c.424G>C (p.Glu142Gln)	ABRAXAS1 (E142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2152469	NM_000082.4(ERCC8):c.271G>C (p.Gly91Arg)	ERCC8 (G91R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3113775	NM_016604.4(KDM3B):c.97G>C (p.Ala33Pro)	KDM3B, LOC129994737 (A33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109130	NM_014443.3(IL17B):c.97G>C (p.Gly33Arg)	IL17B (G33R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3276936	NM_000505.4(F12):c.97G>C (p.Ala33Pro)	F12 (A33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529575	NM_016614.3(TDP2):c.97G>C (p.Ala33Pro)	LOC113174982, TDP2 (A33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 356667	NM_001358530.2(MOCS1):c.358G>C (p.Asp120His)	MOCS1 (D120H +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 1468905	NM_014780.5(CUL7):c.97G>C (p.Asp33His)	CUL7 (D33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778706	NM_006734.4(HIVEP2):c.97G>C (p.Val33Leu)	HIVEP2 (V33L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2314112	NM_016616.5(NME8):c.97G>C (p.Asp33His)	NME8 (D33H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1445980	NM_138701.4(MPLKIP):c.97G>C (p.Gly33Arg)	MPLKIP (G33R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1807280	NM_000162.5(GCK):c.1108G>C (p.Ala370Pro)	GCK (A33P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2891570	NM_004333.6(BRAF):c.97G>C (p.Ala33Pro)	BRAF (A33P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3313618	NM_001099695.2(REPIN1):c.88G>C (p.Gly30Arg)	REPIN1, REPIN1-AS1 (G30R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 409962	NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro)	XRCC2 (A33P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 954887	NM_018941.4(CLN8):c.97G>C (p.Val33Leu)	CLN8 (V33L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2054899	NM_024596.5(MCPH1):c.199G>C (p.Gly67Arg)	MCPH1 (G65R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3310843	NM_015310.4(PSD3):c.1705G>C (p.Glu569Gln)	PSD3 (E568Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3230723	NM_000237.3(LPL):c.97G>C (p.Asp33His)	LPL (D33H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2775955	NM_030780.5(SLC25A32):c.97G>C (p.Gly33Arg)	SLC25A32 (G33R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695610	NM_002546.4(TNFRSF11B):c.97G>C (p.Glu33Gln)	TNFRSF11B (E33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768283	NM_002171.2(IFNA10):c.97G>C (p.Gly33Arg)	IFNA10 (G33R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2200354	NM_000077.5(CDKN2A):c.250G>C (p.Asp84His)	CDKN2A (D84H +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 3270940	NM_024345.5(DCAF10):c.97G>C (p.Gly33Arg)	DCAF10 (G33R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 598441	NM_033087.4(ALG2):c.97G>C (p.Val33Leu)	ALG2 (V33L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2252904	NM_007371.4(BRD3):c.97G>C (p.Gly33Arg)	BRD3 (G33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2951223	NM_001008212.2(OPTN):c.97G>C (p.Asp33His)	LOC108903148, OPTN (D33H)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 3225520	NM_006258.4(PRKG1):c.97G>C (p.Asp33His)	PRKG1 (D33H)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3283863	NM_182765.6(HECTD2):c.418G>C (p.Glu140Gln)	HECTD2, HECTD2-AS1 (E33Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283027	NM_004832.3(GSTO1):c.181G>C (p.Glu61Gln)	GSTO1 (E33Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340403	NM_001368894.2(PAX6):c.97G>C (p.Ala33Pro)	PAX6 (A114P +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 846091	NM_024426.6(WT1):c.859G>C (p.Ala287Pro)	WT1 (A287P +4 more)	Single nucleotide variant (missense variant +1 more)	Drash syndrome +3 more	GUncertain significance
Select item 3201884	NM_005693.4(NR1H3):c.79G>C (p.Asp27His)	NR1H3 (D27H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379499	NM_001365809.2(SYT7):c.97G>C (p.Val33Leu)	SYT7 (V33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2696435	NM_001370259.2(MEN1):c.97G>C (p.Asp33His)	MEN1 (D33H)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 3320838	NM_033388.2(ATG16L2):c.415G>C (p.Val139Leu)	ATG16L2 (V33L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993904	NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro)	SERPINH1 (A33P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3364834	NM_024678.6(NARS2):c.97G>C (p.Ala33Pro)	NARS2 (A33P)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2981653	NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)	ACAT1 (A42P +2 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2236540	NM_002234.4(KCNA5):c.97G>C (p.Glu33Gln)	KCNA5 (E33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091514	NM_153207.5(AEBP2):c.97G>C (p.Ala33Pro)	AEBP2, LOC130007516 (A33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110773	NM_001366544.2(IRAG2):c.256G>C (p.Ala86Pro)	IRAG2 (A1033P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607339	NM_001172681.2(ZNF641):c.526G>C (p.Gly176Arg)	ZNF641 (G190R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134007	NM_016293.4(BIN2):c.97G>C (p.Gly33Arg)	BIN2 (G33R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314982	NM_015972.4(POLR1D):c.97G>C (p.Ala33Pro)	POLR1D (A33P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1508063	NM_001354768.3(NRL):c.412G>C (p.Val138Leu)	NRL (V138L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3096168	NM_002028.4(FNTB):c.97G>C (p.Glu33Gln)	CHURC1-FNTB, FNTB (E33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274003	NM_152328.5(ADSS1):c.97G>C (p.Val33Leu)	ADSS1, LOC130056631 (V33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2111261	NM_130839.5(UBE3A):c.274G>C (p.Ala92Pro)	SNHG14, UBE3A (A33P +3 more)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome	GUncertain significance
Select item 1032648	NM_014994.3(MAPKBP1):c.97G>C (p.Glu33Gln)	MAPKBP1 (E33Q)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 2908366	NM_001145358.2(SIN3A):c.97G>C (p.Val33Leu)	SIN3A (V33L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2298092	NM_173469.4(UBE2Q2):c.97G>C (p.Glu33Gln)	UBE2Q2 (E33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1427144	NM_014862.4(ARNT2):c.97G>C (p.Val33Leu)	ARNT2 (V33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399596	NM_006384.4(CIB1):c.87-110G>C	CIB1 (V33L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1775666	NM_024675.4(PALB2):c.157G>C (p.Glu53Gln)	PALB2 (E33Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 569340	NM_024675.4(PALB2):c.97G>C (p.Ala33Pro)	PALB2 (A33P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321417	NM_002386.4(MC1R):c.97G>C (p.Ala33Pro)	MC1R (A33P)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 869639	NM_013337.4(TIMM22):c.97G>C (p.Val33Leu)	TIMM22 (V33L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1485438	NM_014336.5(AIPL1):c.97G>C (p.Val33Leu)	AIPL1 (V33L)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 4	GUncertain significance
Select item 1498916	NM_002470.4(MYH3):c.97G>C (p.Asp33His)	MYH3 (D33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630952	NM_001372.4(DNAH9):c.11161G>C (p.Glu3721Gln)	DNAH9 (E33Q +1 more)	Single nucleotide variant (missense variant)	DNAH9-related disorder	GUncertain significance
Select item 41864	NM_144997.7(FLCN):c.97G>C (p.Asp33His)	FLCN (D33H)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2553507	NM_005568.5(LHX1):c.97G>C (p.Glu33Gln)	LHX1 (E33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221131	NM_181539.5(KRT26):c.97G>C (p.Val33Leu)	KRT26 (V33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1390011	NM_007294.4(BRCA1):c.478G>C (p.Gly160Arg)	BRCA1 (G113R +11 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 55769	NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)	BRCA1 (E33Q)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1950880	NM_000626.4(CD79B):c.94G>C (p.Glu32Gln)	CD79B, GH-LCR (E32Q +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 6, autosomal recessive	GUncertain significance
Select item 1409457	NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg)	KCNJ2 (G33R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 3276811	NM_001013839.4(EXOC7):c.97G>C (p.Glu33Gln)	EXOC7 (E33Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461691	NM_198129.4(LAMA3):c.97G>C (p.Gly33Arg)	LAMA3 (G33R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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