C0005684[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +31 more	GPathogenic
Select item 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +17 more	GPathogenic OOncogenic
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +26 more	GPathogenic/Likely pathogenic
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	Connective tissue disorder +18 more	GPathogenic/Likely pathogenic
Select item 16338	NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +18 more	GPathogenic/Likely pathogenic
Select item 242210	NM_198253.3(TERT):c.-57A>C	LOC110806263, TERT	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GConflicting classifications of pathogenicity OOncogenic
Select item 1299388	NM_198253.3(TERT):c.-124C>T	LOC110806263, TERT	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 2 +2 more	GLikely pathogenic OOncogenic
Select item 48885	NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	TSC1 (R692* +3 more)	Single nucleotide variant (nonsense)	Lymphangiomyomatosis +5 more	GPathogenic
Select item 428256	NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)	PTEN (G165R +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 180856	NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)	HRAS, LRRC56 (R169Q +1 more)	Single nucleotide variant (missense variant +1 more)	Large congenital melanocytic nevus +8 more	GUncertain significance
Select item 12604	NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	HRAS, LRRC56 (G13D)	Single nucleotide variant (missense variant +1 more)	not provided +10 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 12600	NM_005343.4(HRAS):c.35G>T (p.Gly12Val)	LRRC56, HRAS (G12V)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +3 more	GPathogenic
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 231933	NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)	ATM (Q675*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 216021	NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	ATM (R805*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
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 482526	NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)	ATM (R1898*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 1352830	NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)	ATM (Q1906*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
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 3029	NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	ATM, C11orf65 (R3047*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS (D153V)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 52160	NM_000059.4(BRCA2):c.67+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GPathogenic
Select item 51409	NM_000059.4(BRCA2):c.316+5G>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51599	NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)	BRCA2 (Q1371*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 409496	NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter)	BRCA2 (W2574*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38116	NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)	BRCA2 (W2586*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52911	NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)	BRCA2 (Q3295*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 997629	NM_000321.3(RB1):c.-149G>T	RB1	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 576223	NM_000321.3(RB1):c.62C>T (p.Pro21Leu)	RB1 (P21L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 645423	NM_000321.3(RB1):c.89A>C (p.Glu30Ala)	RB1 (E30A)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 1043395	NM_000321.3(RB1):c.94G>C (p.Asp32His)	RB1 (D32H)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	GUncertain significance
Select item 1054272	NM_000321.3(RB1):c.130C>G (p.Leu44Val)	RB1 (L44V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 840943	NM_000321.3(RB1):c.161A>G (p.Glu54Gly)	RB1 (E54G)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	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 934822	NM_000321.3(RB1):c.175G>C (p.Ala59Pro)	RB1 (A59P)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +1 more	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 410946	NM_000321.3(RB1):c.235G>C (p.Glu79Gln)	RB1 (E79Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	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 527903	NM_000321.3(RB1):c.263T>G (p.Leu88Trp)	RB1 (L88W)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 821651	NM_000321.3(RB1):c.266G>A (p.Gly89Glu)	RB1 (G89E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 458158	NM_000321.3(RB1):c.269G>T (p.Gly90Val)	RB1 (G90V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 664139	NM_000321.3(RB1):c.339G>A (p.Met113Ile)	RB1 (M113I)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 851675	NM_000321.3(RB1):c.446C>T (p.Ser149Leu)	RB1 (S149L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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
Select item 574955	NM_000321.3(RB1):c.474G>C (p.Leu158Phe)	RB1 (L158F)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +3 more	GConflicting classifications of pathogenicity
Select item 575576	NM_000321.3(RB1):c.536G>T (p.Ser179Ile)	RB1 (S179I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 579207	NM_000321.3(RB1):c.539+1G>A	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma +3 more	GLikely pathogenic
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 458175	NM_000321.3(RB1):c.607G>T (p.Gly203Trp)	RB1 (G203W)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
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 660863	NM_000321.3(RB1):c.689C>T (p.Ser230Leu)	RB1 (S230L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 458178	NM_000321.3(RB1):c.694C>T (p.Pro232Ser)	RB1 (P232S)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 458179	NM_000321.3(RB1):c.697A>G (p.Met233Val)	RB1 (M233V)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 950555	NM_000321.3(RB1):c.733C>T (p.Pro245Ser)	RB1 (P245S)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 576862	NM_000321.3(RB1):c.761G>A (p.Arg254Lys)	RB1 (R254K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 842728	NM_000321.3(RB1):c.812C>T (p.Thr271Ile)	RB1 (T271I)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	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 1443136	NM_000321.3(RB1):c.889A>T (p.Ile297Leu)	RB1 (I297L)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 639804	NM_000321.3(RB1):c.890T>C (p.Ile297Thr)	RB1 (I297T)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	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 577551	NM_000321.3(RB1):c.959G>T (p.Arg320Leu)	RB1 (R320L)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 836253	NM_000321.3(RB1):c.964G>A (p.Glu322Lys)	RB1 (E322K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +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 658872	NM_000321.3(RB1):c.1067C>T (p.Thr356Ile)	RB1 (T356I)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 527932	NM_000321.3(RB1):c.1093G>C (p.Glu365Gln)	RB1 (E365Q)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GUncertain significance
Select item 1025503	NM_000321.3(RB1):c.1123G>C (p.Val375Leu)	RB1 (V375L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 848110	NM_000321.3(RB1):c.1128G>C (p.Arg376Ser)	RB1 (R376S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 960531	NM_000321.3(RB1):c.1160T>C (p.Met387Thr)	RB1 (M387T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 665312	NM_000321.3(RB1):c.1163T>G (p.Ile388Ser)	RB1 (I388S)	Single nucleotide variant (missense variant)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
Select item 458119	NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)	RB1 (A392T)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +4 more	GUncertain significance
Select item 126832	NM_000321.3(RB1):c.1215+1G>A	RB1	Single nucleotide variant (splice donor variant)	Malignant tumor of urinary bladder +4 more	GPathogenic
Select item 527936	NM_000321.3(RB1):c.1215+3A>G	RB1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 644735	NM_000321.3(RB1):c.1215+10A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma +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 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 410926	NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)	RB1 (E440K)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 577156	NM_000321.3(RB1):c.1364G>A (p.Arg455Gln)	RB1 (R455Q)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	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 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 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 656539	NM_000321.3(RB1):c.1410T>G (p.Ile470Met)	RB1 (I470M)	Single nucleotide variant (missense variant)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
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 1496135	NM_000321.3(RB1):c.1436A>G (p.Asp479Gly)	RB1 (D479G)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 527899	NM_000321.3(RB1):c.1439A>G (p.Asn480Ser)	RB1 (N480S)	Single nucleotide variant (missense variant)	RB1-related disorder +2 more	GUncertain significance
Select item 458134	NM_000321.3(RB1):c.1672A>C (p.Met558Leu)	RB1 (M558L)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 410936	NM_000321.3(RB1):c.1736G>A (p.Arg579Gln)	RB1 (R579Q)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GConflicting classifications of pathogenicity
Select item 819952	NM_000321.3(RB1):c.1741G>A (p.Gly581Arg)	RB1 (G581R)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 852418	NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr)	RB1 (D584Y)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 410944	NM_000321.3(RB1):c.1768T>G (p.Cys590Gly)	RB1 (C590G)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 571216	NM_000321.3(RB1):c.1772C>T (p.Pro591Leu)	RB1 (P591L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 820290	NM_000321.3(RB1):c.1892A>G (p.Gln631Arg)	RB1 (Q631R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	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 2678285	NM_000321.3(RB1):c.1945C>G (p.Leu649Val)	RB1 (L649V)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GUncertain significance
Select item 820461	NM_000321.3(RB1):c.1982G>A (p.Arg661Gln)	RB1 (R661Q)	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +2 more	GUncertain significance
Select item 820519	NM_000321.3(RB1):c.2002C>A (p.Arg668Ser)	RB1 (R668S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance

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