ClinVar for MedGen (Select 14150) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240297	NM_000321.3(RB1):c.664G>A (p.Val222Ile)	RB1 (V222I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3240295	NM_000321.3(RB1):c.1894G>A (p.Ala632Thr)	RB1 (A632T)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3240294	NM_000321.3(RB1):c.1411C>A (p.Gln471Lys)	RB1 (Q471K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3240293	NM_000321.3(RB1):c.2275G>A (p.Val759Ile)	RB1 (V759I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3240292	NM_000321.3(RB1):c.259G>T (p.Val87Leu)	RB1 (V87L)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3240291	NM_000321.3(RB1):c.796C>A (p.Gln266Lys)	RB1 (Q266K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3240290	NM_000321.3(RB1):c.2019C>A (p.His673Gln)	RB1 (H673Q)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3240289	NM_000321.3(RB1):c.887T>G (p.Phe296Cys)	RB1 (F296C)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 3231188	NM_000321.3(RB1):c.1408A>G (p.Ile470Val)	RB1 (I470V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2891136	NM_000321.3(RB1):c.2231T>G (p.Ile744Ser)	RB1 (I744S)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 2726310	NM_000321.3(RB1):c.1245A>G (p.Ile415Met)	RB1 (I415M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2678294	NM_000321.3(RB1):c.1050-11T>G	RB1	Single nucleotide variant (intron variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 2678293	NM_000321.3(RB1):c.2594G>C (p.Gly865Ala)	RB1 (G15A +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678292	NM_000321.3(RB1):c.940G>A (p.Val314Ile)	RB1 (V314I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678291	NM_000321.3(RB1):c.772A>G (p.Asn258Asp)	RB1 (N258D)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678290	NM_000321.3(RB1):c.1390-3C>A	RB1	Single nucleotide variant (intron variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678289	NM_000321.3(RB1):c.164C>G (p.Pro55Arg)	RB1 (P55R)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678288	NM_000321.3(RB1):c.2059A>G (p.Thr687Ala)	RB1 (T687A)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678285	NM_000321.3(RB1):c.1945C>G (p.Leu649Val)	RB1 (L649V)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 2678284	NM_000321.3(RB1):c.1395A>C (p.Glu465Asp)	RB1 (E465D)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678283	NM_000321.3(RB1):c.218G>C (p.Arg73Thr)	RB1 (R73T)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678281	NM_000321.3(RB1):c.539+4A>G	RB1	Single nucleotide variant (intron variant)	Malignant tumor of urinary bladder +1 more	GConflicting classifications of pathogenicity
Select item 2678280	NM_000321.3(RB1):c.2493C>G (p.Ile831Met)	RB1 (I831M)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2678279	NM_000321.3(RB1):c.8C>T (p.Pro3Leu)	RB1 (P3L)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 2582289	NM_004448.4(ERBB2):c.1958C>T (p.Ser653Phe)	ERBB2 (S377F +13 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582288	NM_004448.4(ERBB2):c.925G>A (p.Gly309Arg)	ERBB2 (G223R +7 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582287	NM_001982.4(ERBB3):c.180G>A (p.Met60Ile)	ERBB3 (M60I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582286	NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)	ATM (W1710*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic/Likely pathogenic
Select item 2582285	NM_000389.5(CDKN1A):c.142C>T (p.Arg48Ter)	CDKN1A (R48* +2 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582284	NM_000051.4(ATM):c.1681C>T (p.Gln561Ter)	ATM (Q561*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582283	NM_000314.8(PTEN):c.493-3C>T	PTEN	Single nucleotide variant (intron variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2582282	NM_000368.5(TSC1):c.556del (p.Ala186fs)	TSC1 (A135fs +2 more)	Deletion (frameshift variant +2 more)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2582281	NM_005228.5(EGFR):c.2287G>A (p.Ala763Thr)	EGFR, EGFR-AS1 (A496T +3 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582280	NM_005228.5(EGFR):c.1786C>T (p.Pro596Ser)	EGFR (P329S +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582279	NM_000389.5(CDKN1A):c.195_196delinsAA (p.Trp65_Glu66delinsTer)	CDKN1A	Indel (nonsense)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2582278	NM_000142.5(FGFR3):c.2089G>A (p.Gly697Ser)	FGFR3 (G585S +4 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582277	NM_000142.5(FGFR3):c.1910G>A (p.Gly637Glu)	FGFR3 (G525E +3 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582276	NM_006015.6(ARID1A):c.3105dup (p.Met1036fs)	ARID1A (M1036fs)	Duplication (frameshift variant)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2582275	NM_000142.5(FGFR3):c.1196G>A (p.Arg399His)	FGFR3 (R399H +1 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582274	NM_006218.4(PIK3CA):c.3120G>A (p.Met1040Ile)	PIK3CA (M1040I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582273	NM_006015.6(ARID1A):c.5919G>A (p.Trp1973Ter)	ARID1A (W1756* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582272	NM_006015.6(ARID1A):c.5058G>A (p.Trp1686Ter)	ARID1A (W1469* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582271	NM_006015.6(ARID1A):c.4891C>T (p.Gln1631Ter)	ARID1A (Q1414* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582270	NM_006015.6(ARID1A):c.4435C>T (p.Gln1479Ter)	ARID1A (Q1479*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582269	NM_006015.6(ARID1A):c.4258C>T (p.Gln1420Ter)	ARID1A (Q1420*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582268	NM_006015.6(ARID1A):c.4072C>T (p.Gln1358Ter)	ARID1A (Q1358*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582267	NM_000321.3(RB1):c.13del (p.Thr5fs)	RB1 (T5fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 2582266	NM_006015.6(ARID1A):c.2683C>T (p.Gln895Ter)	ARID1A (Q895*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582265	NM_006015.6(ARID1A):c.2323C>T (p.Gln775Ter)	ARID1A (Q775*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582264	NM_006015.6(ARID1A):c.2272C>T (p.Gln758Ter)	ARID1A (Q758*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582263	NM_006015.6(ARID1A):c.2008C>T (p.Gln670Ter)	ARID1A (Q670*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582262	NM_006015.6(ARID1A):c.1585C>T (p.Gln529Ter)	ARID1A (Q529*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582261	NM_006015.6(ARID1A):c.1210C>T (p.Gln404Ter)	ARID1A (Q404*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582260	NM_006015.6(ARID1A):c.6144G>A (p.Trp2048Ter)	ARID1A (W1831* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582259	NM_000368.5(TSC1):c.589del (p.Cys197fs)	TSC1 (C146fs +2 more)	Deletion (frameshift variant +2 more)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2582258	NM_005228.5(EGFR):c.2561C>T (p.Thr854Ile)	EGFR (T587I +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582257	NM_005228.5(EGFR):c.1792G>A (p.Gly598Arg)	EGFR (G331R +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582256	NM_006015.6(ARID1A):c.5566C>T (p.Gln1856Ter)	ARID1A (Q1639* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 2582255	NM_001291415.2(KDM6A):c.3790C>T (p.Gln1264Ter)	KDM6A (Q1133* +7 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582254	NM_001291415.2(KDM6A):c.3653G>A (p.Trp1218Ter)	KDM6A (W1087* +7 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582253	NM_001291415.2(KDM6A):c.1303C>T (p.Gln435Ter)	KDM6A (Q435*)	Single nucleotide variant (intron variant +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582252	NM_001291415.2(KDM6A):c.1228C>T (p.Gln410Ter)	KDM6A (Q410*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582251	NM_000400.4(ERCC2):c.1627C>T (p.Gln543Ter)	ERCC2 (Q543*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2582250	NM_006015.6(ARID1A):c.2632C>T (p.Gln878Ter)	ARID1A (Q878*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582249	NM_000059.4(BRCA2):c.8755-3C>T	BRCA2	Single nucleotide variant (intron variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582248	NM_000400.4(ERCC2):c.799C>T (p.Gln267Ter)	ERCC2 (Q243* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582247	NM_001982.4(ERBB3):c.2782G>A (p.Glu928Lys)	ERBB3 (E928K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582246	NM_001982.4(ERBB3):c.307C>T (p.Arg103Cys)	ERBB3 (R103C)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582245	NM_000051.4(ATM):c.8306G>A (p.Trp2769Ter)	ATM, C11orf65 (W2769*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582244	NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)	ATM, C11orf65 (W2300*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2582243	NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter)	ATM (W1710*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic
Select item 2582242	NM_006015.6(ARID1A):c.4372C>T (p.Gln1458Ter)	ARID1A (Q1458*)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582241	NM_006015.6(ARID1A):c.3988C>T (p.Gln1330Ter)	ARID1A (Q1330*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582240	NM_006015.6(ARID1A):c.2434C>T (p.Gln812Ter)	ARID1A (Q812*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582239	NM_006015.6(ARID1A):c.1813C>T (p.Gln605Ter)	ARID1A (Q605*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582238	NM_006015.6(ARID1A):c.511C>T (p.Gln171Ter)	ARID1A (Q171*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582237	NM_001291415.2(KDM6A):c.1987C>T (p.Gln663Ter)	KDM6A (Q315* +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582236	NM_001291415.2(KDM6A):c.1627C>T (p.Gln543Ter)	KDM6A (Q195* +4 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582235	NM_001291415.2(KDM6A):c.985C>T (p.Gln329Ter)	KDM6A (Q329* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582234	NM_000400.4(ERCC2):c.439C>T (p.Gln147Ter)	ERCC2 (Q123* +1 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582233	NM_004448.4(ERBB2):c.2515G>A (p.Val839Met)	ERBB2 (V493M +19 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2582232	NM_004448.4(ERBB2):c.2089G>A (p.Val697Met)	ERBB2 (V421M +13 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of urinary bladder	GPathogenic
Select item 2137959	NM_001042492.3(NF1):c.1274G>A (p.Trp425Ter)	NF1 (W425*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 2124671	NM_000059.4(BRCA2):c.10081C>T (p.Gln3361Ter)	BRCA2 (Q1222* +4 more)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2106206	NM_000051.4(ATM):c.9155G>A (p.Trp3052Ter)	ATM, C11orf65 (W3052*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2039938	NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)	ATM (W1058*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 1912846	NM_001042492.3(NF1):c.3652C>T (p.Gln1218Ter)	NF1 (Q1218*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1780360	NM_000321.3(RB1):c.17C>T (p.Pro6Leu)	RB1 (P6L)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 1759592	NM_000321.3(RB1):c.1246C>A (p.Leu416Met)	RB1 (L416M)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 1700649	NM_013266.4(CTNNA3):c.2568del (p.Lys856fs)	CTNNA3 (K856fs)	Deletion (frameshift variant)	Malignant tumor of urinary bladder	GLikely pathogenic
Select item 1691355	NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)	FGFR3 (P461L +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance
Select item 1686121	NM_000321.3(RB1):c.1970dup (p.Ala658fs)	RB1 (A658fs)	Duplication (frameshift variant)	Malignant tumor of urinary bladder	GPathogenic
Select item 1685422	NM_000321.3(RB1):c.2490-1530_*109del	RB1	Deletion (splice acceptor variant +1 more)	Malignant tumor of urinary bladder	GLikely pathogenic
Select item 1685421	NM_000321.3(RB1):c.381-2A>T	RB1	Single nucleotide variant (splice acceptor variant)	Malignant tumor of urinary bladder	GLikely pathogenic
Select item 1684285	NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)	FGFR3 (P62S)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +14 more	GUncertain significance
Select item 1680115	NM_000142.5(FGFR3):c.1959+15G>C	FGFR3	Single nucleotide variant (intron variant)	not provided +14 more	GBenign/Likely benign
Select item 1680111	NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg)	FGFR3 (K537R +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance
Select item 1680106	NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +15 more	GConflicting classifications of pathogenicity
Select item 1680065	NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu)	FGFR3 (V311L +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +15 more	GUncertain significance
Select item 1570596	NM_000321.3(RB1):c.452T>A (p.Leu151Gln)	RB1 (L151Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity

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