ClinVar for MedGen (Select 1648436) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1295

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068055	NM_021133.4(RNASEL):c.1127_1129del (p.Glu376del)	RNASEL (E376del)	Deletion (inframe_deletion)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 3024086	NM_021133.4(RNASEL):c.2039+1del	RNASEL	Deletion (splice donor variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687729	NM_000546.6(TP53):c.376-6_376-5insG	TP53	Insertion (5 prime UTR variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687728	NM_000546.6(TP53):c.376-48T>A	TP53	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687727	NM_000546.6(TP53):c.376-4_376-3delinsTA	TP53	Indel (5 prime UTR variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687726	NM_000546.6(TP53):c.376-3delinsAG	TP53	Indel (5 prime UTR variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687725	NM_000546.6(TP53):c.376-12dup	TP53	Duplication (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687724	NM_000546.6(TP53):c.376-11del	TP53	Deletion (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687723	NM_000546.6(TP53):c.376-4A>C	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687722	NM_000546.6(TP53):c.379dup (p.Ser127fs)	TP53 (S127fs +1 more)	Duplication (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687721	NM_000546.6(TP53):c.376-36dup	TP53	Duplication (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687720	NM_000546.6(TP53):c.376-11T>C	TP53	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687719	NM_000546.6(TP53):c.376-6C>G	TP53	Single nucleotide variant (5 prime UTR variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687718	NM_000546.6(TP53):c.376-3del	TP53	Deletion (5 prime UTR variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687717	NM_000546.6(TP53):c.376-12del	TP53	Deletion (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687716	NM_000546.6(TP53):c.376-6del	TP53	Deletion (5 prime UTR variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687715	NM_000546.6(TP53):c.559+35G>A	TP53	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687714	NM_000546.6(TP53):c.376-2del	TP53	Deletion (splice acceptor variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687713	NM_000546.6(TP53):c.496T>G (p.Ser166Ala)	TP53 (S127A +3 more)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687712	NM_000546.6(TP53):c.490A>C (p.Lys164Gln)	TP53 (K125Q +3 more)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687711	NM_000546.6(TP53):c.433del (p.Leu145fs)	TP53 (L106fs +2 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687710	NM_000546.6(TP53):c.461_462delinsAT (p.Gly154Asp)	TP53 (G115D +2 more)	Indel (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687709	NM_000546.6(TP53):c.454C>A (p.Pro152Thr)	TP53 (P113T +2 more)	Single nucleotide variant (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687708	NM_000546.6(TP53):c.443A>T (p.Asp148Val)	TP53 (D109V +2 more)	Single nucleotide variant (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687707	NM_000546.6(TP53):c.432_433delinsCA (p.Gln144_Leu145delinsHisMet)	TP53	Indel (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687706	NM_000546.6(TP53):c.428T>A (p.Val143Glu)	TP53 (V104E +2 more)	Single nucleotide variant (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687705	NM_000546.6(TP53):c.428del (p.Val143fs)	TP53 (V104fs +2 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687704	NM_000546.6(TP53):c.427G>C (p.Val143Leu)	TP53 (V104L +2 more)	Single nucleotide variant (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687703	NM_000546.6(TP53):c.376_377delinsCT (p.Tyr126Leu)	TP53 (Y126L +1 more)	Indel (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687702	NM_000546.6(TP53):c.388dup (p.Leu130fs)	TP53 (L130fs +1 more)	Duplication (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687701	NM_000546.6(TP53):c.550G>C (p.Asp184His)	TP53 (D145H +3 more)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687700	NM_000546.6(TP53):c.457C>G (p.Pro153Ala)	TP53 (P114A +2 more)	Single nucleotide variant (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687699	NM_000546.6(TP53):c.398T>G (p.Met133Arg)	TP53 (M133R +2 more)	Single nucleotide variant (missense variant +3 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687698	NM_000546.6(TP53):c.382C>T (p.Pro128Ser)	TP53 (P128S +1 more)	Single nucleotide variant (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687697	NM_000546.6(TP53):c.502C>A (p.His168Asn)	TP53 (H129N +3 more)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687696	NM_000546.6(TP53):c.495_499delinsCCCTA (p.Gln165_Gln167delinsHisProLys)	TP53	Indel (missense variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687695	NM_000546.6(TP53):c.461_463delinsCAT (p.Gly154_Thr155delinsAlaSer)	TP53	Indel (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687694	NM_000546.6(TP53):c.460_462delinsAT (p.Gly154fs)	TP53 (G115fs +2 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687693	NM_000546.6(TP53):c.388_390delinsGAT (p.Leu130Asp)	TP53 (L130D +1 more)	Indel (missense variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687692	NM_000546.6(TP53):c.496_497insG (p.Ser166fs)	TP53 (S127fs +3 more)	Insertion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687691	NM_000546.6(TP53):c.555dup (p.Asp186fs)	TP53 (D147fs +3 more)	Duplication (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687690	NM_000546.6(TP53):c.554del (p.Ser185fs)	TP53 (S146fs +3 more)	Deletion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687689	NM_000546.6(TP53):c.554dup (p.Ser185fs)	TP53 (S146fs +3 more)	Duplication (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687688	NM_000546.6(TP53):c.550del (p.Asp184fs)	TP53 (D145fs +3 more)	Deletion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687687	NM_000546.6(TP53):c.550dup (p.Asp184fs)	TP53 (D145fs +3 more)	Duplication (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687686	NM_000546.6(TP53):c.550_551insC (p.Asp184fs)	TP53 (D145fs +3 more)	Insertion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687685	NM_000546.6(TP53):c.548dup (p.Asp184fs)	TP53 (D145fs +3 more)	Duplication (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687684	NM_000546.6(TP53):c.546del (p.Ser183fs)	TP53 (S144fs +3 more)	Deletion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687683	NM_000546.6(TP53):c.539dup (p.Arg181fs)	TP53 (R142fs +3 more)	Duplication (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687682	NM_000546.6(TP53):c.396_397insT (p.Met133fs)	TP53 (M133fs +2 more)	Insertion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687681	NM_000546.6(TP53):c.533dup (p.His178fs)	TP53 (H139fs +3 more)	Duplication (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687680	NM_000546.6(TP53):c.522del (p.Arg174fs)	TP53 (R135fs +3 more)	Deletion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687679	NM_000546.6(TP53):c.522dup (p.Arg175fs)	TP53 (R136fs +3 more)	Duplication (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687678	NM_000546.6(TP53):c.516del (p.Val172_Val173insTer)	TP53	Deletion (frameshift variant +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 2687677	NM_000546.6(TP53):c.511_512insC (p.Glu171fs)	TP53 (E12fs +3 more)	Insertion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687676	NM_000546.6(TP53):c.503dup (p.His168fs)	TP53 (H129fs +3 more)	Duplication (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687675	NM_000546.6(TP53):c.499_500del (p.Gln167fs)	TP53 (Q128fs +3 more)	Microsatellite (frameshift variant +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 2687674	NM_000546.6(TP53):c.498del (p.Gln167fs)	TP53 (Q128fs +3 more)	Deletion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687673	NM_000546.6(TP53):c.496_497insGC (p.Ser166fs)	TP53 (S127fs +3 more)	Insertion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687672	NM_000546.6(TP53):c.493delinsAA (p.Gln165fs)	TP53 (Q126fs +3 more)	Indel (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687671	NM_000546.6(TP53):c.432del (p.Gln144fs)	TP53 (Q105fs +2 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687670	NM_000546.6(TP53):c.491del (p.Lys164fs)	TP53 (K125fs +3 more)	Deletion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687669	NM_000546.6(TP53):c.463del (p.Thr155fs)	TP53 (T116fs +2 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687668	NM_000546.6(TP53):c.461delinsAT (p.Gly154fs)	TP53 (G115fs +2 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687667	NM_000546.6(TP53):c.461_462delinsCAT (p.Gly154fs)	TP53 (G115fs +2 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687666	NM_000546.6(TP53):c.457_458insATGTCGCCACGCGGTCCGAC (p.Pro153fs)	TP53 (P114fs +2 more)	Insertion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687665	NM_000546.6(TP53):c.435_436delinsAAG (p.Trp146fs)	TP53 (W107fs +2 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687664	NM_000546.6(TP53):c.427_428insC (p.Val143fs)	TP53 (V104fs +2 more)	Insertion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687663	NM_000546.6(TP53):c.424_425del (p.Pro142fs)	TP53 (P103fs +2 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687662	NM_000546.6(TP53):c.422_423insT (p.Val143fs)	TP53 (V104fs +2 more)	Insertion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687661	NM_000546.6(TP53):c.421del (p.Cys141fs)	TP53 (C102fs +2 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687660	NM_000546.6(TP53):c.421dup (p.Cys141fs)	TP53 (C102fs +2 more)	Duplication (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687659	NM_000546.6(TP53):c.417_418insT (p.Thr140fs)	TP53 (T101fs +2 more)	Insertion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687658	NM_000546.6(TP53):c.415_416delinsG (p.Lys139fs)	TP53 (K100fs +2 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687657	NM_000546.6(TP53):c.413_414insG (p.Lys139fs)	TP53 (K100fs +2 more)	Insertion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687656	NM_000546.6(TP53):c.409dup (p.Leu137fs)	TP53 (L137fs +2 more)	Duplication (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687655	NM_000546.6(TP53):c.401_402delinsCTG (p.Phe134fs)	TP53 (F134fs +2 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687654	NM_000546.6(TP53):c.395del (p.Lys132fs)	TP53 (K132fs +1 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687653	NM_000546.6(TP53):c.392del (p.Asn131fs)	TP53 (N131fs +1 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687652	NM_000546.6(TP53):c.386_387insA (p.Leu130fs)	TP53 (L130fs +1 more)	Insertion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687651	NM_000546.6(TP53):c.383dup (p.Ala129fs)	TP53 (A129fs +1 more)	Duplication (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687650	NM_000546.6(TP53):c.377dup (p.Tyr126Ter)	TP53 (Y126* +1 more)	Duplication (nonsense +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687649	NM_000546.6(TP53):c.376delinsGG (p.Tyr126fs)	TP53 (Y126fs +1 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687648	NM_000546.6(TP53):c.376delinsAG (p.Tyr126fs)	TP53 (Y126fs +1 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687647	NM_000546.6(TP53):c.548_549insT (p.Asp184fs)	TP53 (D145fs +3 more)	Insertion (frameshift variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687646	NM_000546.6(TP53):c.532dup (p.His178fs)	TP53 (H139fs +3 more)	Duplication (frameshift variant +1 more)	Li-Fraumeni syndrome	GPathogenic
Select item 2687645	NM_000546.6(TP53):c.431del (p.Gln144fs)	TP53 (Q105fs +2 more)	Deletion (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687644	NM_000546.6(TP53):c.428dup (p.Gln144fs)	TP53 (Q105fs +2 more)	Duplication (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687643	NM_000546.6(TP53):c.492_493delinsTT (p.Lys164_Gln165delinsAsnTer)	TP53	Indel (nonsense +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687642	NM_000546.6(TP53):c.453C>A (p.Pro151=)	TP53	Single nucleotide variant (synonymous variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687641	NM_000546.6(TP53):c.390C>G (p.Leu130=)	TP53	Single nucleotide variant (synonymous variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687640	NM_000546.6(TP53):c.441T>G (p.Val147=)	TP53	Single nucleotide variant (synonymous variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687639	NM_000546.6(TP53):c.559+5del	TP53	Deletion (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687638	NM_000546.6(TP53):c.559+11G>T	TP53	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687637	NM_000546.6(TP53):c.376-9T>C	TP53	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687636	NM_000546.6(TP53):c.376-8dup	TP53	Duplication (intron variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687635	NM_000546.6(TP53):c.413delinsTG (p.Ala138fs)	TP53 (A138fs +2 more)	Indel (frameshift variant +2 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687634	NM_000546.6(TP53):c.531CCA[1] (p.His179del)	TP53 (H140del +3 more)	Microsatellite (inframe_deletion +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687632	NM_000314.8(PTEN):c.368A>C (p.His123Pro)	PTEN (H123P +1 more)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 2687631	NM_000314.8(PTEN):c.365T>A (p.Ile122Asn)	PTEN (I122N +1 more)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, hereditary, 1	GUncertain significance

<< First< Prev

Page of 13