PHC2-AS1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2207174	NM_001385109.1(PHC2):c.1552G>T (p.Ala518Ser)	PHC2, PHC2-AS1 (A276S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307178	NM_001385109.1(PHC2):c.1549C>T (p.Pro517Ser)	PHC2, PHC2-AS1 (P275S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743098	NM_001385109.1(PHC2):c.1544C>T (p.Pro515Leu)	PHC2, PHC2-AS1 (P514L +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2555178	NM_001385109.1(PHC2):c.1526C>T (p.Thr509Met)	PHC2, PHC2-AS1 (T267M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207172	NM_001385109.1(PHC2):c.1487C>A (p.Ala496Asp)	PHC2, PHC2-AS1 (A467D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211987	NM_001385109.1(PHC2):c.1459C>T (p.Arg487Trp)	PHC2, PHC2-AS1 (R486W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542101	NM_001385109.1(PHC2):c.1457C>T (p.Thr486Met)	PHC2, PHC2-AS1 (T484M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306080	NM_001385109.1(PHC2):c.1409C>A (p.Pro470His)	PHC2, PHC2-AS1 (P468H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306085	NM_001385109.1(PHC2):c.1387C>T (p.Pro463Ser)	PHC2, PHC2-AS1 (P221S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306084	NM_001385109.1(PHC2):c.1382C>T (p.Ala461Val)	PHC2, PHC2-AS1 (A432V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243512	NM_001385109.1(PHC2):c.1369C>A (p.Gln457Lys)	PHC2, PHC2-AS1 (Q428K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484339	NM_001385109.1(PHC2):c.1316G>C (p.Gly439Ala)	PHC2, PHC2-AS1 (G197A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767664	NM_001385109.1(PHC2):c.1311C>T (p.Pro437=)	PHC2, PHC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391275	NM_001385109.1(PHC2):c.1199C>T (p.Pro400Leu)	PHC2, PHC2-AS1 (P400L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552757	NM_001385109.1(PHC2):c.1156G>A (p.Ala386Thr)	PHC2, PHC2-AS1 (A144T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725556	NM_001385109.1(PHC2):c.1100G>A (p.Arg367Gln)	PHC2, PHC2-AS1 (R367Q +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2638621	NM_001385109.1(PHC2):c.978C>T (p.Ala326=)	PHC2, PHC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Items: 21