"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "GP9"[ge - ClinVar

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

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 662842	NC_000003.12:g.(?_129061730)_(129062283_?)del	GP9	Deletion	not provided	GPathogenic
Select item 2190152	NM_000174.5(GP9):c.2T>C (p.Met1Thr)	GP9 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 902701	NM_000174.5(GP9):c.18C>T (p.Ala6=)	GP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13534	NM_000174.5(GP9):c.20T>C (p.Leu7Pro)	GP9 (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1130345	NM_000174.5(GP9):c.30C>G (p.Leu10=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983391	NM_000174.5(GP9):c.69A>G (p.Pro23=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13533	NM_000174.5(GP9):c.70T>C (p.Cys24Arg)	GP9 (C24R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1096068	NM_000174.5(GP9):c.75C>T (p.Thr25=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985901	NM_000174.5(GP9):c.78C>T (p.Cys26=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728112	NM_000174.5(GP9):c.80G>A (p.Arg27His)	GP9 (R27H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2890182	NM_000174.5(GP9):c.87G>A (p.Leu29=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909018	NM_000174.5(GP9):c.93C>T (p.Thr31=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893553	NM_000174.5(GP9):c.99G>T (p.Gly33=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587003	NM_000174.5(GP9):c.99G>A (p.Gly33=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1131221	NM_000174.5(GP9):c.102G>A (p.Leu34=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889144	NM_000174.5(GP9):c.108G>A (p.Val36=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734558	NM_000174.5(GP9):c.119del (p.Gly40fs)	GP9 (G40fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 723429	NM_000174.5(GP9):c.123C>T (p.His41=)	GP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2893294	NM_000174.5(GP9):c.125G>T (p.Gly42Val)	GP9 (G42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902702	NM_000174.5(GP9):c.131C>T (p.Thr44Met)	GP9 (T44M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 255471	NM_000174.5(GP9):c.132G>A (p.Thr44=)	GP9	Single nucleotide variant (synonymous variant)	Bernard Soulier syndrome +2 more	GBenign
Select item 2416082	NM_000174.5(GP9):c.138G>C (p.Leu46=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591160	NM_000174.5(GP9):c.150G>T (p.Pro50=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149217	NM_000174.5(GP9):c.165C>T (p.His55=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094514	NM_000174.5(GP9):c.171G>C (p.Leu57=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13529	NM_000174.5(GP9):c.182A>G (p.Asn61Ser)	GP9 (N61S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +3 more	GPathogenic/Likely pathogenic
Select item 1638414	NM_000174.5(GP9):c.195C>T (p.Ser65=)	GP9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1491487	NM_000174.5(GP9):c.212T>G (p.Phe71Cys)	GP9 (F71C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 13531	NM_000174.5(GP9):c.212T>C (p.Phe71Ser)	GP9 (F71S)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +2 more	GPathogenic
Select item 2982948	NM_000174.5(GP9):c.219C>T (p.His73=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915240	NM_000174.5(GP9):c.224C>T (p.Pro75Leu)	GP9 (P75L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900152	NM_000174.5(GP9):c.236C>T (p.Thr79Ile)	GP9 (T79I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2890854	NM_000174.5(GP9):c.240C>T (p.Leu80=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2202172	NM_000174.5(GP9):c.241G>A (p.Asp81Asn)	GP9 (D81N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1553179	NM_000174.5(GP9):c.249G>T (p.Thr83=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1121063	NM_000174.5(GP9):c.249G>A (p.Thr83=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084639	NM_000174.5(GP9):c.252G>A (p.Gln84=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065315	NM_000174.5(GP9):c.289C>T (p.Arg97Cys)	GP9 (R97C)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1077263	NM_000174.5(GP9):c.290G>A (p.Arg97His)	GP9 (R97H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2046737	NM_000174.5(GP9):c.312G>T (p.Thr104=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108628	NM_000174.5(GP9):c.312G>A (p.Thr104=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557959	NM_000174.5(GP9):c.315C>T (p.Pro105=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570008	NM_000174.5(GP9):c.318G>A (p.Glu106=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886428	NM_000174.5(GP9):c.327G>A (p.Leu109=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 900153	NM_000174.5(GP9):c.334C>T (p.Arg112Cys)	GP9 (R112C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1150760	NM_000174.5(GP9):c.342C>T (p.Ala114=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 766651	NM_000174.5(GP9):c.345C>T (p.Ser115=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146596	NM_000174.5(GP9):c.351C>T (p.Ser117=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750829	NM_000174.5(GP9):c.354C>T (p.Leu118=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718566	NM_000174.5(GP9):c.363T>C (p.His121=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019906	NM_000174.5(GP9):c.366C>T (p.Gly122=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 343220	NM_000174.5(GP9):c.368C>T (p.Pro123Leu)	GP9 (P123L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 796288	NM_000174.5(GP9):c.369G>A (p.Pro123=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753474	NM_000174.5(GP9):c.384A>T (p.Thr128=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151467	NM_000174.5(GP9):c.385G>A (p.Gly129Ser)	GP9 (G129S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1088777	NM_000174.5(GP9):c.387C>T (p.Gly129=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 900154	NM_000174.5(GP9):c.423G>A (p.Ala141=)	GP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1080947	NM_000174.5(GP9):c.441G>A (p.Gly147=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721252	NM_000174.5(GP9):c.445T>C (p.Leu149=)	GP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2968816	NM_000174.5(GP9):c.453C>T (p.Asp151=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122031	NM_000174.5(GP9):c.459G>A (p.Ala153=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912557	NM_000174.5(GP9):c.462G>T (p.Leu154=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140390	NM_000174.5(GP9):c.462G>C (p.Leu154=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654885	NM_000174.5(GP9):c.465C>T (p.Val155=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196227	NM_000174.5(GP9):c.466G>A (p.Ala156Thr)	GP9 (A156T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2741150	NM_000174.5(GP9):c.468C>A (p.Ala156=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049152	NM_000174.5(GP9):c.469G>A (p.Val157Met)	GP9 (V157M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2099253	NM_000174.5(GP9):c.474C>A (p.Ala158=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158869	NM_000174.5(GP9):c.474C>T (p.Ala158=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170228	NM_000174.5(GP9):c.475G>A (p.Ala159Thr)	GP9 (A159T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695267	NM_000174.5(GP9):c.477G>A (p.Ala159=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562772	NM_000174.5(GP9):c.477G>T (p.Ala159=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894406	NM_000174.5(GP9):c.480G>A (p.Leu160=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 639283	NM_000174.5(GP9):c.488C>A (p.Ala163Asp)	GP9 (A163D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 343222	NM_000174.5(GP9):c.501C>G (p.Gly167=)	GP9	Single nucleotide variant (synonymous variant)	Bernard Soulier syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1110952	NM_000174.5(GP9):c.513C>T (p.Ala171=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122098	NM_000174.5(GP9):c.519A>G (p.Thr173=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541915	NM_000174.5(GP9):c.525C>T (p.Ala175=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416134	NM_000174.5(GP9):c.526C>T (p.Leu176=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1093809	NM_000174.5(GP9):c.528G>A (p.Leu176=)	GP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 343223	NM_000174.5(GP9):c.533G>A (p.Ter178=)	GP9	Single nucleotide variant (synonymous variant)	Bernard Soulier syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	MBD4, MCM2 +109 more	Deletion	Alkaptonuria	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 83