RMI2[gene] - ClinVar

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

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 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)	SOCS1, RMI2 (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 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 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	CLEC16A, DEXI +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	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +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	DPEP2, DPEP3 +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

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: 47