PERCC1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 146966	GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1	BAIAP3, CCDC154 +32 more	Copy number loss	See cases	GBenign
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 694448	NC_000016.10:g.1425365_1432378del	LOC115253417, LOC130058164 +2 more	Deletion	Diarrhea 11, malabsorptive, congenital	GPathogenic
Select item 694449	NC_000016.10:g.1430850_1433951del	LOC115253417, PERCC1	Deletion	Diarrhea 11, malabsorptive, congenital	GPathogenic
Select item 3250540	NM_001365310.2(PERCC1):c.45C>T (p.Pro15=)	PERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582632	NM_001365310.2(PERCC1):c.348C>G (p.Tyr116Ter)	PERCC1 (Y116*)	Single nucleotide variant (nonsense)	Diarrhea 11, malabsorptive, congenital	GLikely pathogenic
Select item 3235249	NM_001365310.2(PERCC1):c.541G>A (p.Gly181Arg)	PERCC1 (G181R)	Single nucleotide variant (missense variant)	Diarrhea 11, malabsorptive, congenital	GUncertain significance
Select item 3257121	NM_001365310.2(PERCC1):c.663G>A (p.Pro221=)	PERCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 22