"GeneDx"[submitter] AND "PUF60"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 2504989	NM_078480.3(PUF60):c.1679G>C (p.Ter560Ser)	PUF60	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2502036	NM_078480.3(PUF60):c.1606T>A (p.Trp536Arg)	PUF60 (W476R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421110	NM_078480.3(PUF60):c.1489ATC[1] (p.Ile498del)	PUF60 (I498del +9 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 986397	NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)	PUF60 (G431R +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 +1 more	GUncertain significance
Select item 3252698	NM_078480.3(PUF60):c.1370G>A (p.Arg457His)	PUF60 (R397H +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722774	NM_078480.3(PUF60):c.1357C>T (p.Gln453Ter)	PUF60 (Q393* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3368081	NM_078480.3(PUF60):c.1343G>A (p.Arg448Gln)	PUF60 (R388Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363840	NM_078480.3(PUF60):c.1339G>A (p.Ala447Thr)	PUF60 (A387T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442768	NM_078480.3(PUF60):c.1328C>T (p.Ser443Leu)	PUF60 (S383L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505720	NM_078480.3(PUF60):c.1292C>A (p.Pro431Gln)	PUF60 (P371Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311349	NM_078480.3(PUF60):c.1276C>T (p.Pro426Ser)	PUF60 (P366S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363943	NM_078480.3(PUF60):c.1242G>C (p.Glu414Asp)	PUF60 (E354D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571980	NM_078480.3(PUF60):c.1220C>T (p.Pro407Leu)	PUF60 (P347L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365337	NM_078480.3(PUF60):c.1219C>T (p.Pro407Ser)	PUF60 (P347S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372836	NM_078480.3(PUF60):c.1183_1187del (p.Pro395fs)	PUF60 (P335fs +9 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2662242	NM_078480.3(PUF60):c.1175T>C (p.Val392Ala)	PUF60 (V332A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691649	NM_078480.3(PUF60):c.1123C>T (p.Gln375Ter)	PUF60 (Q315* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2662706	NM_078480.3(PUF60):c.1021G>A (p.Gly341Arg)	PUF60 (G281R +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 430000	NM_078480.3(PUF60):c.993del (p.Lys332fs)	PUF60 (K314fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3363963	NM_078480.3(PUF60):c.959C>T (p.Pro320Leu)	PUF60 (P260L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366020	NM_078480.3(PUF60):c.893G>A (p.Arg298Gln)	PUF60 (R238Q +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335846	NM_078480.3(PUF60):c.808G>A (p.Gly270Ser)	PUF60 (G210S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313893	NM_078480.3(PUF60):c.803G>T (p.Gly268Val)	PUF60 (G208V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804470	NM_078480.3(PUF60):c.786_788del (p.Thr263del)	PUF60 (T203del +9 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
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 3364738	NM_078480.3(PUF60):c.683T>A (p.Ile228Asn)	PUF60 (I168N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446650	NM_078480.3(PUF60):c.639CAT[1] (p.Ile215del)	PUF60 (I155del +9 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 425573	NM_078480.3(PUF60):c.619_637del (p.Asn207fs)	PUF60 (N189fs +9 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3370613	NM_078480.3(PUF60):c.613C>A (p.Pro205Thr)	PUF60 (P145T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372883	NM_078480.3(PUF60):c.590dup (p.Arg198fs)	PUF60 (R155fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
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 984998	NM_078480.3(PUF60):c.533_535del (p.Glu178del)	PUF60 (E118del +9 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 280867	NM_078480.3(PUF60):c.485G>A (p.Trp162Ter)	PUF60 (W162* +9 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3363912	NM_078480.3(PUF60):c.461C>T (p.Pro154Leu)	PUF60 (P108L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1697048	NM_078480.3(PUF60):c.448G>C (p.Ala150Pro)	PUF60 (A104P +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430448	NM_078480.3(PUF60):c.439C>G (p.Gln147Glu)	PUF60 (Q101E +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506678	NM_078480.3(PUF60):c.424G>A (p.Glu142Lys)	PUF60 (E113K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599205	NM_078480.3(PUF60):c.407_410del (p.Ile136fs)	PUF60 (I118fs +9 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3371106	NM_078480.3(PUF60):c.392T>C (p.Val131Ala)	PUF60 (V102A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488376	NM_078480.3(PUF60):c.389G>A (p.Arg130His)	PUF60 (R130H +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 1700748	NM_078480.3(PUF60):c.371C>T (p.Ala124Val)	PUF60 (A106V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340606	NM_078480.3(PUF60):c.367C>T (p.Arg123Trp)	PUF60 (R105W +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1699111	NM_078480.3(PUF60):c.361C>T (p.Arg121Trp)	PUF60 (R103W +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372569	NM_078480.3(PUF60):c.349A>T (p.Met117Leu)	PUF60 (M100L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315065	NM_078480.3(PUF60):c.348+4A>C	PUF60	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1313005	NM_078480.3(PUF60):c.265G>A (p.Ala89Thr)	PUF60 (A126T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253070	NM_078480.3(PUF60):c.175C>G (p.Leu59Val)	PUF60 (L16V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378202	NM_078480.3(PUF60):c.38A>C (p.Gln13Pro)	PUF60 (Q12P +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1712719	NM_078480.3(PUF60):c.28G>A (p.Val10Ile)	PUF60 (V10I +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 504037	NM_078480.3(PUF60):c.24+3_24+6del	LOC126860549, PUF60	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 421831	NM_078480.3(PUF60):c.24+1G>A	LOC126860549, PUF60	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 3365450	NM_078480.3(PUF60):c.19G>C (p.Ala7Pro)	LOC126860549, PUF60 (A7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803493	NM_078480.3(PUF60):c.19G>A (p.Ala7Thr)	LOC126860549, PUF60 (A7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575531	NM_078480.3(PUF60):c.-1G>A	LOC126860549, PUF60	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3360256	NM_078480.3(PUF60):c.1535T>C (p.Ile512Thr)	PUF60 (I452T +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359961	NM_078480.3(PUF60):c.199C>A (p.Leu67Ile)	PUF60 (L104I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 62