PMCH[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 151182	GRCh38/hg38 12q23.2(chr12:102123861-102457250)x1	IGF1, LINC02456 +10 more	Copy number loss	See cases	GLikely benign
Select item 3215791	NM_002674.4(PMCH):c.462G>T (p.Met154Ile)	PARPBP, PMCH (M154I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710175	NM_002674.4(PMCH):c.399G>T (p.Gly133=)	PARPBP, PMCH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2281327	NM_002674.4(PMCH):c.370G>A (p.Glu124Lys)	PARPBP, PMCH (E124K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215789	NM_002674.4(PMCH):c.225C>G (p.Asn75Lys)	PMCH (N75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215788	NM_002674.4(PMCH):c.205G>C (p.Asp69His)	PMCH (D69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344266	NM_002674.4(PMCH):c.62G>T (p.Gly21Val)	PMCH (G21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063248	GRCh37/hg19 12q23.2(chr12:102012266-102738384)x3	CHPT1, DRAM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 1340831	GRCh37/hg19 12q23.2(chr12:102583659-102654572)x1	PARPBP, PMCH	Copy number loss	not provided	GLikely benign
Select item 980452	GRCh37/hg19 12q23.2(chr12:102583458-102711311)x1	PARPBP, PMCH	Copy number loss	not provided	GUncertain significance
Select item 815550	GRCh37/hg19 12q23.2(chr12:101953283-102683945)x1	PARPBP, CHPT1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 687657	GRCh37/hg19 12q23.2(chr12:102116591-102607083)x3	CHPT1, DRAM1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686626	GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3	ANO4, ARL1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 21