"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PUF60"[ - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 774250	NM_078480.3(PUF60):c.1569T>C (p.Ser523=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 789605	NM_078480.3(PUF60):c.1329G>C (p.Ser443=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 722846	NM_078480.3(PUF60):c.1266G>A (p.Glu422=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773780	NM_078480.3(PUF60):c.1254G>A (p.Glu418=)	PUF60	Single nucleotide variant (synonymous variant)	8q24.3 microdeletion syndrome +1 more	GBenign/Likely benign
Select item 735473	NM_078480.3(PUF60):c.1162CCT[1] (p.Pro389del)	PUF60 (P343del +9 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 756395	NM_078480.3(PUF60):c.1145-6C>T	PUF60	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 948645	NM_078480.3(PUF60):c.1094G>C (p.Gly365Ala)	PUF60 (G348A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709608	NM_078480.3(PUF60):c.822C>T (p.Tyr274=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751239	NM_078480.3(PUF60):c.810C>T (p.Gly270=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736184	NM_078480.3(PUF60):c.777G>C (p.Arg259=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733122	NM_078480.3(PUF60):c.753G>A (p.Lys251=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1402726	NM_078480.3(PUF60):c.714dup (p.Asp239fs)	PUF60 (D222fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 748714	NM_078480.3(PUF60):c.561G>A (p.Leu187=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723929	NM_078480.3(PUF60):c.546T>C (p.Ala182=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752328	NM_078480.3(PUF60):c.511-4C>T	PUF60	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 585122	NM_078480.3(PUF60):c.503_509del (p.Lys168fs)	PUF60 (K205fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1067021	NM_078480.3(PUF60):c.479T>C (p.Met160Thr)	PUF60 (M100T +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 753835	NM_078480.3(PUF60):c.390C>T (p.Arg130=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733812	NM_078480.3(PUF60):c.219C>T (p.Tyr73=)	PUF60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740348	NM_078480.3(PUF60):c.154G>A (p.Ala52Thr)	PUF60 (A23T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 599475	NM_078480.3(PUF60):c.60GGC[6] (p.Ala25dup)	PUF60	Microsatellite (5 prime UTR variant +2 more)	8q24.3 microdeletion syndrome +2 more	GBenign/Likely benign
Select item 745631	NM_078480.3(PUF60):c.66G>T (p.Ala22=)	PUF60	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 750990	NM_078480.3(PUF60):c.63G>A (p.Ala21=)	PUF60	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 735920	NM_078480.3(PUF60):c.60G>A (p.Pro20=)	PUF60	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 747596	NM_078480.3(PUF60):c.54C>T (p.Ser18=)	PUF60	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 853320	NM_078480.3(PUF60):c.51dup (p.Ser18fs)	PUF60 (S18fs +2 more)	Duplication (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1071986	NM_078480.3(PUF60):c.10del (p.Ala4fs)	LOC126860549, PUF60 (A4fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance

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Items: 29