ClinVar for Gene (Select 5525) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309518	NM_006243.4(PPP2R5A):c.134G>T (p.Arg45Leu)	PPP2R5A (R45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309517	NM_006243.4(PPP2R5A):c.781G>A (p.Ala261Thr)	PPP2R5A (A204T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309515	NM_006243.4(PPP2R5A):c.1078G>A (p.Val360Ile)	PPP2R5A (V303I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2528898	NM_006243.4(PPP2R5A):c.94G>A (p.Ala32Thr)	PPP2R5A (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527525	NM_006243.4(PPP2R5A):c.565G>A (p.Val189Ile)	PPP2R5A (V132I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485049	NM_006243.4(PPP2R5A):c.1430A>C (p.His477Pro)	PPP2R5A (H477P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483176	NM_006243.4(PPP2R5A):c.1352G>T (p.Arg451Leu)	PPP2R5A (R394L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469179	NM_006243.4(PPP2R5A):c.142G>A (p.Gly48Ser)	PPP2R5A (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361543	NM_006243.4(PPP2R5A):c.553G>C (p.Asp185His)	PPP2R5A (D185H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329829	NM_006243.4(PPP2R5A):c.182A>G (p.Asp61Gly)	PPP2R5A (D61G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278289	NM_006243.4(PPP2R5A):c.34A>G (p.Ser12Gly)	PPP2R5A (S12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248410	NM_006243.4(PPP2R5A):c.263T>C (p.Val88Ala)	PPP2R5A (V88A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	LOC122149494, LOC122149495 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565220	GRCh37/hg19 1q32.3(chr1:212323040-212681049)x3	NENF, PPP2R5A +1 more	Copy number gain	not provided	GLikely benign
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33