ClinVar for MedGen (Select 107512) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376694	NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)	TP53 (Y104N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376693	NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)	TP53 (Y104C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376673	NM_000546.6(TP53):c.815T>A (p.Val272Glu)	TP53 (V140E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376672	NM_000546.6(TP53):c.647T>A (p.Val216Glu)	TP53 (V177E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 376671	NM_000546.6(TP53):c.647T>G (p.Val216Gly)	TP53 (V177G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376670	NM_000546.6(TP53):c.646G>T (p.Val216Leu)	TP53 (V177L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 376667	NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	TP53 (T125R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376666	NM_000546.6(TP53):c.373A>C (p.Thr125Pro)	TP53 (T125P +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376665	NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	TP53 (S109A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376664	NM_000546.6(TP53):c.721T>C (p.Ser241Pro)	TP53 (S109P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376663	NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	TP53 (S109Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376659	NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	TP53 (R150P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +14 more	GPathogenic/Likely pathogenic
Select item 376658	NM_000546.6(TP53):c.838A>G (p.Arg280Gly)	TP53 (R148G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 376657	NM_000546.6(TP53):c.839G>A (p.Arg280Lys)	TP53 (R148K +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376654	NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	TP53 (R117G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376653	NM_000546.6(TP53):c.746G>T (p.Arg249Met)	TP53 (R117M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376652	NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	TP53 (R116G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 376651	NM_000546.6(TP53):c.637C>G (p.Arg213Gly)	TP53 (R174G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376650	NM_000546.6(TP53):c.638G>T (p.Arg213Leu)	TP53 (R174L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376646	NM_000546.6(TP53):c.833C>A (p.Pro278His)	TP53 (P146H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376645	NM_000546.6(TP53):c.832C>G (p.Pro278Ala)	TP53 (P146A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376644	NM_000546.6(TP53):c.833C>G (p.Pro278Arg)	TP53 (P146R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 376643	NM_000546.6(TP53):c.832C>A (p.Pro278Thr)	TP53 (P146T +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376642	NM_000546.6(TP53):c.832C>T (p.Pro278Ser)	TP53 (P146S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 376611	NM_000546.6(TP53):c.536A>C (p.His179Pro)	TP53 (H140P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376610	NM_000546.6(TP53):c.535C>G (p.His179Asp)	TP53 (H140D +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 376609	NM_000546.6(TP53):c.535C>A (p.His179Asn)	TP53 (H140N +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376608	NM_000546.6(TP53):c.536A>T (p.His179Leu)	TP53 (H140L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376607	NM_000546.6(TP53):c.537T>G (p.His179Gln)	TP53 (H140Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 376606	NM_000546.6(TP53):c.536A>G (p.His179Arg)	TP53 (H140R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 376605	NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	TP53 (G134R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 376598	NM_000546.6(TP53):c.808T>G (p.Phe270Val)	TP53 (F138V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 376597	NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	TP53 (F138C +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 376596	NM_000546.6(TP53):c.808T>A (p.Phe270Ile)	TP53 (F138I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376595	NM_000546.6(TP53):c.810T>G (p.Phe270Leu)	TP53 (F138L +3 more)	Single nucleotide variant (missense variant)	Squamous cell lung carcinoma +8 more	GLikely pathogenic
Select item 376594	NM_000546.6(TP53):c.809T>C (p.Phe270Ser)	TP53 (F138S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 376593	NM_000546.6(TP53):c.857A>C (p.Glu286Ala)	TP53 (E154A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely pathogenic
Select item 376592	NM_000546.6(TP53):c.857A>T (p.Glu286Val)	TP53 (E154V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376591	NM_000546.6(TP53):c.856G>C (p.Glu286Gln)	TP53 (E154Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376590	NM_000546.6(TP53):c.857A>G (p.Glu286Gly)	TP53 (E154G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance
Select item 376589	NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	TP53 (D149A +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 376588	NM_000546.6(TP53):c.841G>C (p.Asp281His)	TP53 (D149H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376587	NM_000546.6(TP53):c.843C>G (p.Asp281Glu)	TP53 (D149E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 376586	NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	TP53 (D149N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 376585	NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	TP53 (D149Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 376513	NM_006908.5(RAC1):c.85C>A (p.Pro29Thr)	RAC1 (P29T)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376512	NM_006908.5(RAC1):c.86C>T (p.Pro29Leu)	RAC1 (P29L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376441	NM_033286.4(KNSTRN):c.71C>T (p.Ser24Phe)	KNSTRN (S24F)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +1 more	GLikely pathogenic
Select item 376389	NM_001278628.2(CRNKL1):c.-101C>T	CRNKL1, LOC130065490 (S116F +1 more)	Single nucleotide variant (missense variant +2 more)	Malignant melanoma of skin +1 more	GLikely pathogenic
Select item 376384	NM_000077.5(CDKN2A):c.150G>T (p.Gln50His)	CDKN2A (Q50H)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 376383	NM_000077.5(CDKN2A):c.341C>A (p.Pro114His)	CDKN2A (P114H +1 more)	Single nucleotide variant (missense variant +2 more)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 376382	NM_000077.5(CDKN2A):c.340C>A (p.Pro114Thr)	CDKN2A (A128D +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 376381	NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)	CDKN2A (H83Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 376380	NM_000077.5(CDKN2A):c.247C>G (p.His83Asp)	CDKN2A (A97G +2 more)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +7 more	GLikely pathogenic
Select item 376379	NM_000077.5(CDKN2A):c.248A>G (p.His83Arg)	CDKN2A (H83R +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376373	NM_001571.5(IRF3):c.-253G>A	BCL2L12, LOC130064935 (R18W)	Single nucleotide variant (missense variant +1 more)	Squamous cell carcinoma of the skin +1 more	GLikely pathogenic
Select item 376362	NM_006908.5(RAC1):c.85C>T (p.Pro29Ser)	RAC1 (P29S)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376323	NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)	HRAS, LRRC56 (G13S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely pathogenic
Select item 376318	NM_005343.4(HRAS):c.183G>T (p.Gln61His)	HRAS, LRRC56 (Q61H)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 3	GLikely pathogenic
Select item 376307	NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr)	CDKN2A (A97V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 376189	NM_004448.4(ERBB2):c.929C>T (p.Ser310Phe)	ERBB2 (S280F +7 more)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376188	NM_004448.4(ERBB2):c.929C>A (p.Ser310Tyr)	ERBB2 (S280Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 376033	NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)	HRAS, LRRC56 (Q61L)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 376015	NM_000546.6(TP53):c.746G>C (p.Arg249Thr)	TP53 (R117T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 237956	NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	TP53 (R150Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +6 more	GConflicting classifications of pathogenicity
Select item 237954	NM_000546.6(TP53):c.743G>C (p.Arg248Pro)	TP53 (R116P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 233323	NM_000546.6(TP53):c.815T>G (p.Val272Gly)	TP53 (V140G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 233303	NM_000546.6(TP53):c.797G>T (p.Gly266Val)	TP53 (G134V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 232497	NM_000546.6(TP53):c.833C>T (p.Pro278Leu)	TP53 (P146L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 232304	NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	CDKN2A (Q50R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 231214	NM_000546.6(TP53):c.638G>C (p.Arg213Pro)	TP53 (R174P +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 231165	NM_000546.6(TP53):c.587G>C (p.Arg196Pro)	TP53 (R157P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 230253	NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	TP53 (R116L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 216465	NM_000546.6(TP53):c.374C>A (p.Thr125Lys)	TP53 (T125K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 185814	NM_000546.6(TP53):c.814G>A (p.Val272Met)	TP53 (V140M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GPathogenic FDA Recognized database
Select item 183752	NM_000546.6(TP53):c.856G>A (p.Glu286Lys)	TP53 (E154K +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GPathogenic/Likely pathogenic
Select item 183748	NM_000546.6(TP53):c.374C>T (p.Thr125Met)	TP53 (T125M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182968	NM_000546.6(TP53):c.842A>T (p.Asp281Val)	TP53 (D149V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 182965	NM_000546.6(TP53):c.646G>A (p.Val216Met)	TP53 (V177M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GPathogenic/Likely pathogenic
Select item 180848	NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	HRAS, LRRC56 (G13V)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GPathogenic
Select item 177791	NM_000546.6(TP53):c.722C>G (p.Ser241Cys)	TP53 (S109C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 161517	NM_000546.6(TP53):c.839G>T (p.Arg280Ile)	TP53 (R148I +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 161516	NM_000546.6(TP53):c.797G>A (p.Gly266Glu)	TP53 (G134E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 142241	NM_000546.6(TP53):c.746G>A (p.Arg249Lys)	TP53 (R117K +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142183	NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)	TP53 (Y104D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 141881	NM_000546.6(TP53):c.745A>T (p.Arg249Trp)	TP53 (R117W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 141141	NM_000546.6(TP53):c.842A>G (p.Asp281Gly)	TP53 (D149G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +3 more	GPathogenic
Select item 140821	NM_000546.6(TP53):c.844C>G (p.Arg282Gly)	TP53 (R150G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 135359	NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	TP53 (R174Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +5 more	GPathogenic
Select item 127815	NM_000546.6(TP53):c.535C>T (p.His179Tyr)	TP53 (H140Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 77637	NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu)	CDKN2A (P114L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 76320	NM_004197.1(STK19):c.265G>A (p.Asp89Asn)	STK19 (D89N +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant melanoma of skin +1 more	GLikely pathogenic
Select item 44803	NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	BRAF (G469V +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 35554	NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	HRAS, LRRC56 (G13R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 13974	NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	BRAF (G469E +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 13971	NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	BRAF (G469A +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 13970	NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)	BRAF (G469R +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +1 more	GPathogenic/Likely pathogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic
Select item 12606	NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	HRAS, LRRC56 (G13C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	LRRC56, HRAS (G12A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GPathogenic

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