"GeneDx"[submitter] AND "PHC1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152932	GRCh38/hg38 12p13.31(chr12:8839030-9134304)x3	A2M, A2M-AS1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 1271948	NM_004426.3(PHC1):c.93T>A (p.Leu31=)	PHC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1178147	NM_004426.3(PHC1):c.114+191T>C	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272832	NM_004426.3(PHC1):c.115-190C>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252581	NM_004426.3(PHC1):c.369C>T (p.Pro123=)	PHC1	Single nucleotide variant (synonymous variant)	Microcephaly 11, primary, autosomal recessive +1 more	GBenign
Select item 1235278	NM_004426.3(PHC1):c.457-215G>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260582	NM_004426.3(PHC1):c.613-274C>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280679	NM_004426.3(PHC1):c.613-176A>G	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 211899	NM_004426.3(PHC1):c.918A>G (p.Arg306=)	PHC1	Single nucleotide variant (synonymous variant)	Microcephaly 11, primary, autosomal recessive +2 more	GBenign
Select item 1238831	NM_004426.3(PHC1):c.1106-228G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288219	NM_004426.3(PHC1):c.1106-60G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244482	NM_004426.3(PHC1):c.1894-221A>G	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271584	NM_004426.3(PHC1):c.1986G>A (p.Lys662=)	PHC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1289518	NM_004426.3(PHC1):c.2041+75A>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290013	NM_004426.3(PHC1):c.2077A>G (p.Thr693Ala)	PHC1 (T693A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1270054	NM_004426.3(PHC1):c.2253+7G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289958	NM_004426.3(PHC1):c.2368+32A>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227373	NM_004426.3(PHC1):c.2369-180A>C	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282841	NM_004426.3(PHC1):c.2628+164G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237271	NM_004426.3(PHC1):c.2629-127G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175399	NM_004426.3(PHC1):c.2732G>A (p.Arg911His)	PHC1 (R911H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1247398	NM_004426.3(PHC1):c.2860+12C>T	PHC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244532	NM_004426.3(PHC1):c.2860+203G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275406	NM_004426.3(PHC1):c.2860+236C>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259124	NM_004426.3(PHC1):c.2861-314G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231103	NM_004426.3(PHC1):c.*243C>T	PHC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 28