"Ambry Genetics"[submitter] AND "PBXIP1"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570366	NM_020524.4(PBXIP1):c.2189G>A (p.Arg730Gln)	PBXIP1 (R575Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209048	NM_020524.4(PBXIP1):c.2188C>T (p.Arg730Trp)	PBXIP1 (R701W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297947	NM_020524.4(PBXIP1):c.2171G>A (p.Ser724Asn)	PBXIP1 (S569N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527358	NM_020524.4(PBXIP1):c.2104T>C (p.Ser702Pro)	PBXIP1 (S673P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352156	NM_020524.4(PBXIP1):c.1969C>T (p.Arg657Trp)	PBXIP1 (R502W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549988	NM_020524.4(PBXIP1):c.1958G>A (p.Arg653His)	PBXIP1 (R624H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209047	NM_020524.4(PBXIP1):c.1949G>A (p.Arg650His)	PBXIP1 (R495H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209046	NM_020524.4(PBXIP1):c.1925T>G (p.Phe642Cys)	PBXIP1 (F642C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251028	NM_020524.4(PBXIP1):c.1865A>T (p.Tyr622Phe)	PBXIP1 (Y467F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388663	NM_020524.4(PBXIP1):c.1808T>C (p.Phe603Ser)	PBXIP1 (F603S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409637	NM_020524.4(PBXIP1):c.1781G>A (p.Cys594Tyr)	PBXIP1 (C439Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388003	NM_020524.4(PBXIP1):c.1777G>A (p.Glu593Lys)	PBXIP1 (E564K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209045	NM_020524.4(PBXIP1):c.1676G>A (p.Arg559Gln)	PBXIP1 (R530Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209044	NM_020524.4(PBXIP1):c.1488A>C (p.Glu496Asp)	PBXIP1 (E496D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209043	NM_020524.4(PBXIP1):c.1475A>G (p.His492Arg)	PBXIP1 (H337R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229407	NM_020524.4(PBXIP1):c.1454G>A (p.Arg485Gln)	PBXIP1 (R485Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318735	NM_020524.4(PBXIP1):c.1395C>A (p.His465Gln)	PBXIP1 (H310Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209042	NM_020524.4(PBXIP1):c.1364A>G (p.Asn455Ser)	PBXIP1 (N300S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456088	NM_020524.4(PBXIP1):c.1264G>A (p.Gly422Arg)	PBXIP1 (G267R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277919	NM_020524.4(PBXIP1):c.1262G>T (p.Arg421Leu)	PBXIP1 (R392L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312956	NM_020524.4(PBXIP1):c.1261C>T (p.Arg421Cys)	PBXIP1 (R266C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489156	NM_020524.4(PBXIP1):c.1250A>G (p.Gln417Arg)	PBXIP1 (Q262R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386134	NM_020524.4(PBXIP1):c.1208G>A (p.Arg403Gln)	PBXIP1 (R374Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209041	NM_020524.4(PBXIP1):c.1207C>T (p.Arg403Trp)	PBXIP1 (R403W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218954	NM_020524.4(PBXIP1):c.1040G>A (p.Arg347Gln)	PBXIP1 (R192Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398460	NM_020524.4(PBXIP1):c.1009C>T (p.Arg337Trp)	PBXIP1 (R337W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209056	NM_020524.4(PBXIP1):c.973C>T (p.Arg325Trp)	PBXIP1 (R296W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226304	NM_020524.4(PBXIP1):c.946G>T (p.Ala316Ser)	PBXIP1 (A161S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542279	NM_020524.4(PBXIP1):c.943G>A (p.Gly315Arg)	PBXIP1 (G286R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258850	NM_020524.4(PBXIP1):c.912A>C (p.Lys304Asn)	PBXIP1 (K149N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209055	NM_020524.4(PBXIP1):c.908C>G (p.Pro303Arg)	PBXIP1 (P274R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391109	NM_020524.4(PBXIP1):c.880G>A (p.Glu294Lys)	PBXIP1 (E294K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292762	NM_020524.4(PBXIP1):c.847C>T (p.Arg283Trp)	PBXIP1 (R283W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209054	NM_020524.4(PBXIP1):c.763G>A (p.Ala255Thr)	PBXIP1 (A226T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522730	NM_020524.4(PBXIP1):c.740A>G (p.Asp247Gly)	PBXIP1 (D218G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209053	NM_020524.4(PBXIP1):c.709G>A (p.Glu237Lys)	PBXIP1 (E208K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219506	NM_020524.4(PBXIP1):c.595C>T (p.Leu199Phe)	PBXIP1 (L199F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205899	NM_020524.4(PBXIP1):c.493C>T (p.Arg165Trp)	PBXIP1 (R10W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598827	NM_020524.4(PBXIP1):c.488G>A (p.Arg163Gln)	PBXIP1 (R134Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209051	NM_020524.4(PBXIP1):c.487C>T (p.Arg163Trp)	PBXIP1 (R8W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596633	NM_020524.4(PBXIP1):c.478C>T (p.Arg160Trp)	PBXIP1 (R160W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530509	NM_020524.4(PBXIP1):c.457G>A (p.Asp153Asn)	PBXIP1 (D153N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617240	NM_020524.4(PBXIP1):c.441C>G (p.Ser147Arg)	PBXIP1 (S147R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209049	NM_020524.4(PBXIP1):c.395C>T (p.Ser132Leu)	PBXIP1 (S103L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594207	NM_020524.4(PBXIP1):c.182C>T (p.Thr61Met)	PBXIP1 (T61M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209052	NM_020524.4(PBXIP1):c.49G>A (p.Glu17Lys)	PBXIP1 (E17K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254526	NM_020524.4(PBXIP1):c.8C>T (p.Ser3Phe)	PBXIP1 (S3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

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Items: 47