RRM2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 2508259	NM_001034.4(RRM2):c.-24G>T	RRM2 (A53S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3156459	NM_001034.4(RRM2):c.39C>G (p.Asp13Glu)	RRM2 (D73E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711013	NM_001034.4(RRM2):c.48G>A (p.Gln16=)	RRM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3315434	NM_001034.4(RRM2):c.89A>G (p.Lys30Arg)	RRM2 (K30R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514506	NM_001034.4(RRM2):c.178A>G (p.Thr60Ala)	RRM2 (T120A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340347	NM_001034.4(RRM2):c.266A>G (p.Asp89Gly)	RRM2 (D149G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614254	NM_001034.4(RRM2):c.434T>C (p.Leu145Ser)	RRM2 (L145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156460	NM_001034.4(RRM2):c.554A>G (p.Lys185Arg)	RRM2 (K185R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246600	NM_001034.4(RRM2):c.596C>T (p.Thr199Met)	RRM2 (T259M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343224	NR_164157.1(RRM2):n.1182A>T	C2orf48, RRM2 (M26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259439	NM_182626.2:c.145T>C	C2orf48, RRM2	Single nucleotide variant	not specified	GUncertain significance
Select item 2223871	NR_164157.1(RRM2):n.1554C>A	C2orf48, RRM2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808012	GRCh37/hg19 2p25.1(chr2:10192689-10462223)x3	C2orf48, CYS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 562559	GRCh37/hg19 2p25.1(chr2:10192688-10462223)x3	C2orf48, CYS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34