PHACTR2[gene] and "single gene"[properties] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2546934	NM_001100164.2(PHACTR2):c.61A>C (p.Lys21Gln)	PHACTR2 (K78Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243419	NM_001100164.2(PHACTR2):c.107C>G (p.Thr36Arg)	PHACTR2 (T25R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285891	NM_001100164.2(PHACTR2):c.436C>G (p.Gln146Glu)	PHACTR2 (Q135E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211932	NM_001100164.2(PHACTR2):c.463G>A (p.Glu155Lys)	PHACTR2 (E155K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211933	NM_001100164.2(PHACTR2):c.477A>C (p.Glu159Asp)	PHACTR2 (E159D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592743	NM_001100164.2(PHACTR2):c.487G>A (p.Ala163Thr)	PHACTR2 (A163T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598243	NM_001100164.2(PHACTR2):c.502C>G (p.Pro168Ala)	PHACTR2 (P157A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307177	NM_001100164.2(PHACTR2):c.521C>T (p.Pro174Leu)	PHACTR2 (P163L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555616	NM_001100164.2(PHACTR2):c.646C>A (p.Pro216Thr)	PHACTR2 (P216T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214969	NM_001100164.2(PHACTR2):c.659C>T (p.Pro220Leu)	PHACTR2 (P220L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211935	NM_001100164.2(PHACTR2):c.680C>T (p.Thr227Met)	PHACTR2 (T216M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211936	NM_001100164.2(PHACTR2):c.722C>T (p.Thr241Ile)	PHACTR2 (T150I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213638	NM_001100164.2(PHACTR2):c.770G>A (p.Arg257His)	PHACTR2 (R113H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602234	NM_001100164.2(PHACTR2):c.778G>A (p.Ala260Thr)	PHACTR2 (A260T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602235	NM_001100164.2(PHACTR2):c.779C>G (p.Ala260Gly)	PHACTR2 (A116G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274356	NM_001100164.2(PHACTR2):c.872C>G (p.Ser291Cys)	PHACTR2 (S211C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211937	NM_001100164.2(PHACTR2):c.909A>T (p.Lys303Asn)	PHACTR2 (K159N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211938	NM_001100164.2(PHACTR2):c.941T>G (p.Phe314Cys)	PHACTR2 (F291C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279564	NM_001100164.2(PHACTR2):c.950A>G (p.Glu317Gly)	PHACTR2 (E226G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211939	NM_001100164.2(PHACTR2):c.962C>T (p.Pro321Leu)	PHACTR2 (P241L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211926	NM_001100164.2(PHACTR2):c.1015C>G (p.Pro339Ala)	PHACTR2 (P248A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363565	NM_001100164.2(PHACTR2):c.1045C>T (p.Pro349Ser)	PHACTR2 (P269S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211927	NM_001100164.2(PHACTR2):c.1076C>T (p.Thr359Ile)	PHACTR2 (T215I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211928	NM_001100164.2(PHACTR2):c.1094T>C (p.Val365Ala)	PHACTR2 (V274A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537331	NM_001100164.2(PHACTR2):c.1094T>G (p.Val365Gly)	PHACTR2 (V354G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510404	NM_001100164.2(PHACTR2):c.1126G>A (p.Val376Ile)	PHACTR2 (V232I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454205	NM_001100164.2(PHACTR2):c.1192T>C (p.Ser398Pro)	PHACTR2 (S318P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242162	NM_001100164.2(PHACTR2):c.1262C>T (p.Thr421Ile)	PHACTR2 (T277I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270403	NM_001100164.2(PHACTR2):c.1297G>A (p.Glu433Lys)	PHACTR2 (E289K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470173	NM_001100164.2(PHACTR2):c.1319C>T (p.Ala440Val)	PHACTR2 (A440V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211929	NM_001100164.2(PHACTR2):c.1390G>A (p.Asp464Asn)	PHACTR2 (D441N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521926	NM_001100164.2(PHACTR2):c.1456C>T (p.Arg486Trp)	PHACTR2 (R406W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540144	NM_001100164.2(PHACTR2):c.1546G>C (p.Glu516Gln)	PHACTR2 (E436Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211930	NM_001100164.2(PHACTR2):c.1609A>G (p.Thr537Ala)	PHACTR2 (T514A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211931	NM_001100164.2(PHACTR2):c.1781C>G (p.Thr594Arg)	PHACTR2 (T503R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216498	NM_001100164.2(PHACTR2):c.1781C>T (p.Thr594Met)	PHACTR2 (T503M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214093	NM_001100164.2(PHACTR2):c.1883C>T (p.Thr628Ile)	PHACTR2 (T484I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980795	GRCh37/hg19 6q24.2(chr6:144043427-144104479)x1	PHACTR2	Copy number loss	not provided	GLikely benign

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Items: 38