Related gene-specific medical variations for Gene (Select 5530) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361475	NM_000944.5(PPP3CA):c.192A>G (p.Ile64Met)	PPP3CA (I64M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361375	NM_000944.5(PPP3CA):c.983T>C (p.Val328Ala)	PPP3CA (V328A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360375	NM_000944.5(PPP3CA):c.379A>G (p.Ile127Val)	PPP3CA (I127V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359565	NM_000944.5(PPP3CA):c.460A>G (p.Arg154Gly)	PPP3CA (R154G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246710	NC_000004.11:g.(?_101947022)_(101961743_?)dup	PPP3CA	Duplication	not provided	GUncertain significance
Select item 3246709	NC_000004.11:g.(?_101950303)_(102267953_?)dup	PPP3CA	Duplication	not provided	GUncertain significance
Select item 3062756	GRCh37/hg19 4q24(chr4:101989642-102162795)x1	PPP3CA	Copy number loss	not specified	GUncertain significance
Select item 3009038	NM_000944.5(PPP3CA):c.1339+16G>A	LOC123477793, PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920688	NM_000944.5(PPP3CA):c.113A>T (p.Asp38Val)	PPP3CA (D38V)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2838246	NM_000944.5(PPP3CA):c.1339+19A>G	LOC123477793, PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689821	NM_000944.5(PPP3CA):c.1208T>C (p.Ile403Thr)	PPP3CA (I361T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571606	NM_000944.5(PPP3CA):c.58+74_58+75delinsCG	PPP3CA, LOC129992871	Indel (intron variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +1 more	GBenign
Select item 2435233	NM_000944.5(PPP3CA):c.1445_1447dup (p.Arg482_Met483insArg)	PPP3CA	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2435232	NM_000944.5(PPP3CA):c.782+3A>G	PPP3CA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2435229	NM_000944.5(PPP3CA):c.1082-10CT[2]	PPP3CA	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2430076	NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs)	PPP3CA (N461fs +2 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely benign
Select item 1599287	NM_000944.5(PPP3CA):c.1339+13_1339+15dup	LOC123477793, PPP3CA	Duplication (intron variant)	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +2 more	GBenign/Likely benign
Select item 1424331	NM_000944.5(PPP3CA):c.1339+10C>T	LOC123477793, PPP3CA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342413	NM_000944.5(PPP3CA):c.58+42297A>C	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1	GUncertain significance
Select item 1256758	NM_000944.5(PPP3CA):c.58+74T>C	LOC129992871, PPP3CA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250390	NM_000944.5(PPP3CA):c.58+75T>G	PPP3CA, LOC129992871	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243916	NM_000944.5(PPP3CA):c.1339+102G>A	LOC123477793, PPP3CA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184296	NM_000944.5(PPP3CA):c.59-12350G>A	PPP3CA	Single nucleotide variant (intron variant)	Epileptic encephalopathy, infantile or early childhood, 1	GUncertain significance
Select item 1179337	NM_000944.5(PPP3CA):c.58+74_58+78del	LOC129992871, PPP3CA	Deletion (intron variant)	not provided	GBenign
Select item 638108	GRCh37/hg19 4q24(chr4:101953182-102026137)x1	PPP3CA	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 25