ClinVar for Gene (Select 140699) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2993305	NM_002951.5(RPN2):c.13+12C>G	MROH8, RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2771311	NM_002951.5(RPN2):c.12G>C (p.Pro4=)	MROH8, RPN2 (R48G)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2426164	NC_000020.10:g.(?_35569422)_(36500415_?)dup	BLCAP, CTNNBL1 +8 more	Duplication	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2159331	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGCGGCCGGCACTCTT	MROH8, RPN2	Insertion (frameshift variant +2 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2120293	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGGCGGCCGGCACTCTT	MROH8, RPN2 (G36fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2041031	NM_002951.5(RPN2):c.13+21_13+22insATAGACGGGGCCCCGCGGCCGGCACTCTT	MROH8, RPN2 (L38fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1986160	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT	MROH8, RPN2 (A33fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1909002	NM_002951.5(RPN2):c.13+11G>T	MROH8, RPN2 (Q44K)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1253465	NM_152503.8(MROH8):c.258+389G>A	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249784	NM_152503.8(MROH8):c.258+472T>A	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238363	NM_152503.8(MROH8):c.258+501G>T	MROH8, RPN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1148510	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT	MROH8, RPN2 (I40fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1115482	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCCGCGGCCGGCACTCTT	MROH8, RPN2	Duplication (frameshift variant +2 more)	Congenital disorder of glycosylation	GLikely benign
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 403105	NM_002951.5(RPN2):c.3_13+18dup	RPN2, MROH8 (H51fs)	Duplication (frameshift variant +2 more)	not specified	GBenign
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20