RMI2[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	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 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 148534	GRCh38/hg38 16p13.13(chr16:10778551-11374173)x3	CIITA, CLEC16A +81 more	Copy number gain	See cases	GLikely benign
Select item 135275	NM_003745.2(SOCS1):c.630G>C (p.Gln210His)	RMI2, SOCS1 (Q210H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2354833	NM_152308.3(RMI2):c.13G>A (p.Ala5Thr)	RMI2 (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154809	NM_152308.3(RMI2):c.14C>A (p.Ala5Glu)	RMI2 (A5E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154810	NM_152308.3(RMI2):c.16G>C (p.Asp6His)	RMI2 (D6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646217	NM_152308.3(RMI2):c.17A>C (p.Asp6Ala)	RMI2 (D6A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3154812	NM_152308.3(RMI2):c.34C>G (p.Pro12Ala)	RMI2 (P12A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306927	NM_152308.3(RMI2):c.49C>T (p.Leu17Phe)	RMI2 (L17F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154814	NM_152308.3(RMI2):c.55A>T (p.Arg19Trp)	RMI2 (R19W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405821	NM_152308.3(RMI2):c.61C>A (p.Pro21Thr)	LOC130058492, RMI2 (P21T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382533	NM_152308.3(RMI2):c.109G>T (p.Gly37Cys)	LOC130058492, RMI2 (G37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303870	NM_152308.3(RMI2):c.170C>T (p.Ala57Val)	LOC130058492, RMI2 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518679	NM_152308.3(RMI2):c.220C>G (p.Leu74Val)	RMI2 (L74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154811	NM_152308.3(RMI2):c.229C>T (p.Pro77Ser)	RMI2 (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490611	NM_152308.3(RMI2):c.263G>A (p.Arg88Gln)	LOC130058493, RMI2 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539893	NM_152308.3(RMI2):c.274G>T (p.Gly92Trp)	LOC130058493, RMI2 (G92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314621	NM_152308.3(RMI2):c.293C>G (p.Pro98Arg)	LOC130058493, RMI2 (P98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314623	NM_152308.3(RMI2):c.364A>G (p.Met122Val)	RMI2 (M122V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314624	NM_152308.3(RMI2):c.396A>C (p.Glu132Asp)	RMI2 (E132D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396336	NM_152308.3(RMI2):c.400A>G (p.Met134Val)	RMI2 (M134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263568	NM_152308.3(RMI2):c.402G>A (p.Met134Ile)	RMI2 (M134I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154813	NM_152308.3(RMI2):c.406G>A (p.Glu136Lys)	RMI2 (E136K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357619	NM_152308.3(RMI2):c.430A>G (p.Arg144Gly)	RMI2 (R144G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243332	NC_000016.9:g.(?_10971188)_(11650586_?)del	CIITA, CLEC16A +8 more	Deletion	MHC class II deficiency	GPathogenic
Select item 2685557	GRCh37/hg19 16p13.13-13.12(chr16:11444572-12722447)x1	BCAR4, GSPT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2685556	GRCh37/hg19 16p13.13(chr16:11431847-11517285)x1	RMI2	Copy number loss	not provided	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	ABAT, ATF7IP2 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564272	GRCh37/hg19 16p13.13(chr16:11387163-11489720)x1	RMI2	Copy number loss	not provided	GUncertain significance
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253820	GRCh37/hg19 16p13.13(chr16:11173868-11681288)x3	PRM2, PRM3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 51