"c.-49T>C" - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1645928	NM_000478.6(ALPL):c.117T>C (p.Tyr39=)	ALPL (M1T)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 925304	NM_001128425.2(MUTYH):c.-11T>C	MUTYH, TOE1 (S5G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1136014	NM_000066.4(C8B):c.108T>C (p.His36=)	C8B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 298068	NM_000016.6(ACADM):c.-29T>C	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2025024	NM_024494.3(WNT2B):c.228T>C (p.Pro76=)	WNT2B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 775608	NM_139119.3(YY1AP1):c.-49T>C	DAP3, YY1AP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1109105	NM_022367.4(SEMA4A):c.463-4T>C	SEMA4A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 296288	NM_003193.5(TBCE):c.-49T>C	TBCE	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 3296226	NM_000251.3(MSH2):c.1308T>C (p.Phe436=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2242705	NM_138326.3(ACMSD):c.76T>C (p.Trp26Arg)	ACMSD (W26R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 331386	NM_015702.3(MMADHC):c.-49T>C	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 668481	NM_000925.3(PDHB):c.-49T>C	PDHB	Single nucleotide variant (genic upstream transcript variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GConflicting classifications of pathogenicity
Select item 514764	NM_001127511.3(APC):c.135T>C (p.Arg45=)	APC	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2829650	NM_001182.5(ALDH7A1):c.36T>C (p.Ala12=)	ALDH7A1	Single nucleotide variant (synonymous variant +1 more)	Pyridoxine-dependent epilepsy	GLikely benign
Select item 1771825	NM_001903.5(CTNNA1):c.1401T>C (p.Ala467=)	CTNNA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2028333	NM_018834.6(MATR3):c.966T>C (p.Leu322=)	MATR3	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 492279	NM_000535.7(PMS2):c.357T>C (p.Asp119=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1777887	NM_000535.7(PMS2):c.167T>C (p.Leu56Pro)	PMS2 (L118P +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1691580	NM_000786.4(CYP51A1):c.-49T>C	CYP51A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1531135	NM_007126.5(VCP):c.87T>C (p.Asp29=)	VCP	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 1537864	NM_014806.5(RUSC2):c.2586T>C (p.Ser862=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1142775	NM_000136.3(FANCC):c.-49T>C	FANCC	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia	GLikely benign
Select item 1280801	NM_001080483.3(MYMK):c.-49T>C	MYMK	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2978788	NM_020549.5(CHAT):c.306T>C (p.Pro102=)	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	Familial infantile myasthenia	GLikely benign
Select item 2969713	NM_018063.5(HELLS):c.1035T>C (p.His345=)	HELLS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 669641	NM_000391.3(TPP1):c.-49T>C	TPP1	Single nucleotide variant	not provided	GLikely benign
Select item 1769332	NM_003977.4(AIP):c.129T>C (p.Ser43=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 514005	NM_001876.4(CPT1A):c.-49T>C	CPT1A, LOC130006268	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1192627	NM_001759.4(CCND2):c.-49T>C	CCND2, CCND2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1560008	NM_014055.4(IFT81):c.718T>C (p.Leu240=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 887651	NM_004727.3(SLC24A1):c.-49T>C	SLC24A1	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness 1D	GUncertain significance
Select item 1100438	NM_002582.4(PARN):c.135T>C (p.Asn45=)	PARN	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1580389	NM_001243279.3(ACSF3):c.747T>C (p.Gly249=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 865102	NM_007294.4(BRCA1):c.89T>C (p.Leu30Ser)	BRCA1 (L30S)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	Gnot provided
Select item 869090	NM_007294.4(BRCA1):c.39T>C (p.Asn13=)	BRCA1	Single nucleotide variant (5 prime UTR variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	Gnot provided
Select item 46116	NM_001256317.3(TMPRSS3):c.333T>C (p.Gly111=)	TMPRSS3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1087632	NM_007194.4(CHEK2):c.615T>C (p.Thr205=)	CHEK2	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GLikely benign
Select item 985789	NM_000026.4(ADSL):c.-49T>C	ADSL	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 389045	NM_006579.3(EBP):c.-49T>C	EBP	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2828281	NM_001110792.2(MECP2):c.267T>C (p.Ala89=)	MECP2	Single nucleotide variant (synonymous variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly	GLikely benign

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Items: 40