ClinVar for Gene (Select 6241) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2343224	NM_182626.3(C2orf48):c.76A>T (p.Met26Leu)	C2orf48, RRM2 (M26L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2259439	NM_182626.2:c.145T>C	C2orf48, RRM2	Single nucleotide variant	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 2223871	NM_182626.2:c.269C>A	C2orf48, RRM2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
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 711013	NM_001034.4(RRM2):c.48G>A (p.Gln16=)	RRM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
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 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 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 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	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 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34