ClinVar for MedGen (Select 816353) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075702	NM_078480.3(PUF60):c.1006C>T (p.Gln336Ter)	PUF60 (Q276* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 3064988	NM_078480.3(PUF60):c.896T>A (p.Val299Glu)	PUF60 (V239E +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3062278	NM_078480.3(PUF60):c.207+1G>A	PUF60	Single nucleotide variant (splice donor variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 3024221	NM_078480.3(PUF60):c.822C>G (p.Tyr274Ter)	PUF60 (Y214* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 2663765	NM_078480.3(PUF60):c.1625T>A (p.Val542Glu)	PUF60 (V482E +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 2582366	NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)	PUF60 (Q399R +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2504097	NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)	PUF60 (Y117C +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2442364	NM_078480.3(PUF60):c.852_853del (p.Ser285fs)	PUF60 (S225fs +9 more)	Microsatellite (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 2435305	NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)	LOC126860549, PUF60 (A4G)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2435304	NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)	PUF60 (S336L +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2435303	NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)	PUF60 (T402A +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2435302	NM_078480.3(PUF60):c.1381-3_1381-2del	PUF60	Microsatellite (splice acceptor variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2435301	NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)	PUF60 (P245L +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2435300	NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)	PUF60 (G289A +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 2431897	NM_078480.3(PUF60):c.841C>T (p.Gln281Ter)	PUF60 (Q221* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1710261	NM_078480.3(PUF60):c.636_640del (p.Gln212fs)	PUF60 (Q152fs +9 more)	Microsatellite (frameshift variant)	8q24.3 microdeletion syndrome +1 more	GPathogenic
Select item 1709445	NM_078480.3(PUF60):c.642del (p.Ile214_Ile215insTer)	PUF60	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1701646	NM_078480.3(PUF60):c.668G>A (p.Arg223Gln)	PUF60 (R163Q +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 1700205	NM_078480.3(PUF60):c.389G>C (p.Arg130Pro)	PUF60 (R101P +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1699420	NM_078480.3(PUF60):c.510+1G>A	PUF60	Single nucleotide variant (splice donor variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1699111	NM_078480.3(PUF60):c.361C>T (p.Arg121Trp)	PUF60 (R103W +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 1686113	NM_078480.3(PUF60):c.208-1G>A	PUF60	Single nucleotide variant (splice acceptor variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1686112	NM_078480.3(PUF60):c.271C>T (p.Gln91Ter)	PUF60 (Q128* +4 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1684535	NM_078480.3(PUF60):c.613C>T (p.Pro205Ser)	PUF60 (P145S +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 1683739	NM_078480.3(PUF60):c.274C>T (p.Gln92Ter)	PUF60 (Q129* +4 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1527938	NM_078480.3(PUF60):c.1550T>G (p.Val517Gly)	PUF60 (V457G +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1341900	NM_078480.3(PUF60):c.239A>G (p.Lys80Arg)	PUF60 (K117R +4 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 1334132	NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg)	PUF60 (C427R +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1334131	NM_078480.3(PUF60):c.848_849del (p.Ala283fs)	PUF60 (A223fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1334130	NM_078480.3(PUF60):c.672dup (p.Phe225fs)	PUF60 (F165fs +9 more)	Duplication (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1333187	NM_078480.3(PUF60):c.860dup (p.Met287fs)	PUF60 (M227fs +9 more)	Duplication (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1333186	NM_078480.3(PUF60):c.803_809del (p.Gly268fs)	PUF60 (G208fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1333185	NM_078480.3(PUF60):c.436C>T (p.Arg146Cys)	PUF60 (R100C +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333184	NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs)	PUF60 (P325fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1324972	NM_078480.3(PUF60):c.24+1G>T	LOC126860549, PUF60	Single nucleotide variant (splice donor variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1324971	NM_078480.3(PUF60):c.472del (p.Ile158fs)	PUF60 (I112fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 1182464	NM_078480.3(PUF60):c.382_383del (p.Met128fs)	PUF60 (M110fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome +1 more	GPathogenic
Select item 1034211	NM_078480.3(PUF60):c.628C>T (p.Gln210Ter)	PUF60 (Q164* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 1034210	NM_078480.3(PUF60):c.603G>A (p.Lys201=)	PUF60	Single nucleotide variant (synonymous variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 1031058	NM_078480.3(PUF60):c.1489A>G (p.Ile497Val)	PUF60 (I437V +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031057	NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu)	PUF60 (P371L +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 986397	NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)	PUF60 (G431R +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 982821	NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser)	PUF60 (Y169S +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 976784	NM_078480.3(PUF60):c.612_630del (p.Asn207fs)	PUF60 (N147fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic/Likely pathogenic
Select item 975765	NM_078480.3(PUF60):c.284_285del (p.Leu95fs)	PUF60 (L132fs +4 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 975764	NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs)	PUF60 (G190fs +9 more)	Insertion (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 975763	NM_078480.3(PUF60):c.712_713del (p.Ser238fs)	PUF60 (S178fs +9 more)	Microsatellite (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 973253	NM_078480.3(PUF60):c.1569dup (p.Glu524Ter)	PUF60 (E544* +9 more)	Duplication (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 931222	NM_078480.3(PUF60):c.297+9C>T	PUF60	Single nucleotide variant (intron variant)	8q24.3 microdeletion syndrome +1 more	GBenign/Likely benign
Select item 928649	NM_078480.3(PUF60):c.464del (p.Ile155fs)	PUF60 (I109fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 802445	NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer)	PUF60	Deletion (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 800900	NM_078480.3(PUF60):c.931del (p.Thr311fs)	PUF60 (T251fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 773780	NM_078480.3(PUF60):c.1254G>A (p.Glu418=)	PUF60	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 666578	NM_078480.3(PUF60):c.1558del (p.Ser520fs)	PUF60 (S460fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 625552	GRCh37/hg19 8q24.3(chr8:144879444-145199846)	CYC1, EPPK1 +14 more	Copy number loss	8q24.3 microdeletion syndrome	GPathogenic
Select item 599475	NM_078480.3(PUF60):c.60GGC[6] (p.Ala25dup)	PUF60	Microsatellite (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 599208	NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)	PUF60 (V483A +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 599207	NM_078480.3(PUF60):c.901A>T (p.Lys301Ter)	PUF60 (K301* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 599206	NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter)	PUF60 (R448* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome +1 more	GPathogenic
Select item 599205	NM_078480.3(PUF60):c.407_410del (p.Ile136fs)	PUF60 (I118fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 599204	NM_078480.3(PUF60):c.24+1G>C	LOC126860549, PUF60	Single nucleotide variant (splice donor variant)	8q24.3 microdeletion syndrome	GUncertain significance
Select item 585122	NM_078480.3(PUF60):c.503_509del (p.Lys168fs)	PUF60 (K205fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 545569	NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter)	PUF60 (Q437* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome	GPathogenic
Select item 520562	NM_078480.3(PUF60):c.478_479del (p.Met160fs)	PUF60 (M117fs +9 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 520432	NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs)	PUF60 (L318fs +9 more)	Indel (frameshift variant)	8q24.3 microdeletion syndrome	GPathogenic
Select item 488889	NM_078480.3(PUF60):c.713C>G (p.Ser238Ter)	PUF60 (S238* +9 more)	Single nucleotide variant (nonsense)	8q24.3 microdeletion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 488376	NM_078480.3(PUF60):c.389G>A (p.Arg130His)	PUF60 (R130H +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 430808	NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)	PUF60	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 425573	NM_078480.3(PUF60):c.619_637del (p.Asn207fs)	PUF60 (N189fs +9 more)	Deletion (frameshift variant)	8q24.3 microdeletion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 425567	NM_078480.3(PUF60):c.541G>A (p.Glu181Lys)	PUF60 (E181K +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374297	NM_078480.3(PUF60):c.1381-2A>G	PUF60	Single nucleotide variant (splice acceptor variant)	8q24.3 microdeletion syndrome +1 more	GLikely pathogenic
Select item 92112	NM_078480.3(PUF60):c.505C>T (p.His169Tyr)	PUF60 (H169Y +9 more)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome	GLikely pathogenic

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Items: 72