PHACTR3[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 2348006	NM_001199505.1(PHACTR3):c.16G>T (p.Gly6Trp)	PHACTR3 (G6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363545	NM_001199505.1(PHACTR3):c.19G>T (p.Gly7Trp)	PHACTR3 (G7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361605	NM_001199505.1(PHACTR3):c.71C>T (p.Ala24Val)	PHACTR3 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211941	NM_080672.5(PHACTR3):c.11C>G (p.Ser4Trp)	PHACTR3 (S4W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318216	NM_080672.5(PHACTR3):c.82T>G (p.Ser28Ala)	PHACTR3 (S28A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211944	NM_080672.5(PHACTR3):c.301G>A (p.Gly101Ser)	PHACTR3 (G60S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211945	NM_080672.5(PHACTR3):c.314G>A (p.Arg105Gln)	PHACTR3 (R64Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211946	NM_080672.5(PHACTR3):c.415C>T (p.Pro139Ser)	PHACTR3 (P98S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368747	NM_080672.5(PHACTR3):c.475G>C (p.Ala159Pro)	PHACTR3 (A156P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320439	NM_080672.5(PHACTR3):c.550C>A (p.Pro184Thr)	PHACTR3 (P143T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469169	NM_080672.5(PHACTR3):c.566G>A (p.Gly189Asp)	PHACTR3 (G148D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356803	NM_080672.5(PHACTR3):c.605A>G (p.Asn202Ser)	PHACTR3 (N161S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211948	NM_080672.5(PHACTR3):c.646A>G (p.Ser216Gly)	PHACTR3 (S216G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355000	NM_080672.5(PHACTR3):c.690C>A (p.Ser230Arg)	PHACTR3 (S227R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342742	NM_080672.5(PHACTR3):c.710C>T (p.Pro237Leu)	PHACTR3 (P196L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208526	NM_080672.5(PHACTR3):c.766T>C (p.Phe256Leu)	PHACTR3 (F253L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557697	NM_080672.5(PHACTR3):c.772G>A (p.Ala258Thr)	PHACTR3 (A255T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367607	NM_080672.5(PHACTR3):c.809G>A (p.Gly270Asp)	PHACTR3 (G267D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605479	NM_080672.5(PHACTR3):c.821C>A (p.Thr274Lys)	PHACTR3 (T163K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351735	NM_080672.5(PHACTR3):c.821C>T (p.Thr274Ile)	PHACTR3 (T163I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251277	NM_080672.5(PHACTR3):c.836C>T (p.Pro279Leu)	PHACTR3 (P276L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310222	NM_080672.5(PHACTR3):c.857G>A (p.Arg286Gln)	PHACTR3 (R286Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558852	NM_080672.5(PHACTR3):c.865C>G (p.Pro289Ala)	PHACTR3 (P178A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528449	NM_080672.5(PHACTR3):c.874C>A (p.Arg292Ser)	PHACTR3 (R292S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211950	NM_080672.5(PHACTR3):c.961A>C (p.Lys321Gln)	PHACTR3 (K321Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380854	NM_080672.5(PHACTR3):c.983C>T (p.Ser328Leu)	PHACTR3 (S328L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540979	NM_080672.5(PHACTR3):c.997G>A (p.Val333Met)	PHACTR3 (V292M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285583	NM_080672.5(PHACTR3):c.1129C>A (p.Leu377Ile)	PHACTR3 (L374I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366851	NM_080672.5(PHACTR3):c.1159G>A (p.Asp387Asn)	PHACTR3 (D276N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211940	NM_080672.5(PHACTR3):c.1165A>G (p.Ile389Val)	PHACTR3 (I348V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211942	NM_080672.5(PHACTR3):c.1255C>T (p.Arg419Trp)	PHACTR3 (R378W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211943	NM_080672.5(PHACTR3):c.1281T>G (p.Asp427Glu)	PHACTR3 (D316E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227436	NM_080672.5(PHACTR3):c.1331G>A (p.Arg444Gln)	PHACTR3 (R403Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304398	NM_080672.5(PHACTR3):c.1400C>T (p.Thr467Ile)	PHACTR3 (T356I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494806	NM_080672.5(PHACTR3):c.1403A>G (p.Glu468Gly)	PHACTR3 (E427G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301945	NM_080672.5(PHACTR3):c.1415G>A (p.Arg472Lys)	PHACTR3 (R361K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521520	NM_080672.5(PHACTR3):c.1499G>A (p.Arg500Gln)	PHACTR3 (R459Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685649	GRCh37/hg19 20q13.32-13.33(chr20:58285282-58411279)x1	PHACTR3	Copy number loss	not provided	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564642	GRCh37/hg19 20q13.32-13.33(chr20:58342058-59978526)x3	LINC02910, CDH4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 56