C0035335[trait identifier] AND "St. Jude Molecular Pathology, St. Jude - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 141925	NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)	MUTYH (P465A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 620615	NM_000077.5(CDKN2A):c.392G>A (p.Arg131His)	CDKN2A (R131H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 135107	NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)	PTCH1 (V1369M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 620620	NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala)	PTCH1 (V277A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 620617	NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)	PTCH1 (A4V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2663974	NM_000321.3(RB1):c.43_80dup (p.Pro28fs)	RB1 (P28fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 590845	NM_000321.3(RB1):c.92dup (p.Asp32fs)	RB1 (D32fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1004646	NM_000321.3(RB1):c.264+5G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely pathogenic
Select item 590846	NM_000321.3(RB1):c.371_372del (p.Ile124fs)	RB1 (I124fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 590844	NM_000321.3(RB1):c.381-1G>A	RB1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13093	NM_000321.3(RB1):c.607+1G>T	RB1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 2444894	NM_000321.3(RB1):c.722del (p.Thr241fs)	RB1 (T241fs)	Deletion (frameshift variant)	Retinoblastoma	GUncertain significance
Select item 458180	NM_000321.3(RB1):c.731T>C (p.Ile244Thr)	RB1 (I244T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2663989	NM_000321.3(RB1):c.847T>C (p.Cys283Arg)	RB1 (C283R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2444868	NM_000321.3(RB1):c.868_869dup (p.Asn290fs)	RB1 (N290fs)	Duplication (frameshift variant)	Retinoblastoma	GUncertain significance
Select item 13076	NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)	RB1 (R358*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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	GConflicting classifications of pathogenicity
Select item 590847	NM_000321.3(RB1):c.1294A>T (p.Lys432Ter)	RB1 (K432*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 1691519	NM_000321.3(RB1):c.1332+4A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 13071	NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)	RB1 (R445*)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder +5 more	GPathogenic
Select item 575453	NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)	RB1 (R451C)	Single nucleotide variant (missense variant)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 126838	NM_000321.3(RB1):c.1456_1457del (p.Leu486fs)	RB1 (L486fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 13090	NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)	RB1 (R556*)	Single nucleotide variant (nonsense)	Retinoblastoma +1 more	GPathogenic
Select item 428659	NM_000321.3(RB1):c.1706del (p.Leu569fs)	RB1 (L569fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 126785	NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)	RB1 (R579*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 527933	NM_000321.3(RB1):c.1859C>T (p.Thr620Met)	RB1 (T620M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2444875	NM_000321.3(RB1):c.1893del (p.Ala632fs)	RB1 (A632fs)	Deletion (frameshift variant)	Retinoblastoma	GUncertain significance
Select item 2663977	NM_000321.3(RB1):c.1960+1316_2107-767del	RB1	Deletion (splice acceptor variant +1 more)	Retinoblastoma	GPathogenic
Select item 13087	NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	RB1	Single nucleotide variant (missense variant)	Malignant tumor of urinary bladder +5 more	GPathogenic
Select item 574925	NM_000321.3(RB1):c.2106+2T>C	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GConflicting classifications of pathogenicity
Select item 458145	NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)	RB1 (P786S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 13073	NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)	RB1 (R787*)	Single nucleotide variant (nonsense)	Retinoblastoma +2 more	GConflicting classifications of pathogenicity
Select item 2444890	NM_000321.3(RB1):c.2403del (p.Asn803fs)	RB1 (N803fs)	Deletion (frameshift variant)	Retinoblastoma	GUncertain significance
Select item 618345	NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer)	RB1	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 620619	NM_000321.3(RB1):c.2558G>A (p.Cys853Tyr)	RB1 (C853Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 416490	NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)	RB1 (D856N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1794593	NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)	RB1 (P42S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 620633	NM_020937.4(FANCM):c.4826_4827del (p.Asp1609fs)	FANCM (D1583fs +1 more)	Deletion (frameshift variant)	Retinoblastoma	GLikely pathogenic
Select item 239151	NM_002382.5(MAX):c.397G>A (p.Ala133Thr)	MAX (A133T +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 216742	NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)	PALB2 (D446V)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 220078	NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)	NF1 (K1752R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

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Items: 41