ClinVar for Gene (Select 5499) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309308	NM_002708.4(PPP1CA):c.718G>A (p.Asp240Asn)	PPP1CA (D240N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309307	NM_002708.4(PPP1CA):c.845T>C (p.Met282Thr)	PPP1CA (M282T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309306	NM_002708.4(PPP1CA):c.634G>T (p.Asp212Tyr)	PPP1CA (D168Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217391	NM_002708.4(PPP1CA):c.898G>A (p.Asp300Asn)	PPP1CA (D311N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217390	NM_002708.4(PPP1CA):c.782G>A (p.Arg261Gln)	PPP1CA (R217Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2557883	NM_002708.4(PPP1CA):c.167A>G (p.Glu56Gly)	PPP1CA (E56G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527366	NM_002708.4(PPP1CA):c.344C>G (p.Pro115Arg)	PPP1CA (P71R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2283957	NM_002708.4(PPP1CA):c.56-31T>C	PPP1CA (S20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563826	GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1	TBC1D10C, GPR152 +12 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395118	GRCh37/hg19 11q13.2(chr11:67160949-67192950)x1	CARNS1, PPP1CA +2 more	Copy number loss	See cases	GLikely benign
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 98426	NM_002708.4(PPP1CA):c.286A>C (p.Arg96=)	PPP1CA	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98425	NM_002708.4(PPP1CA):c.408C>T (p.Phe136=)	PPP1CA	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98424	NM_002708.4(PPP1CA):c.486G>A (p.Ala162=)	PPP1CA	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 29