REM1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
Select item 152494	GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3	COX4I2, DEFB115 +27 more	Copy number gain	See cases	GUncertain significance
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 2455691	NM_014012.6(REM1):c.50C>T (p.Ala17Val)	REM1 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282864	NM_014012.6(REM1):c.59C>T (p.Pro20Leu)	REM1 (P20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217575	NM_014012.6(REM1):c.92G>C (p.Gly31Ala)	REM1 (G31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313600	NM_014012.6(REM1):c.110C>T (p.Pro37Leu)	REM1 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394152	NM_014012.6(REM1):c.134G>A (p.Arg45Gln)	REM1 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282863	NM_014012.6(REM1):c.226T>C (p.Ser76Pro)	REM1 (S76P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152965	NM_014012.6(REM1):c.245G>A (p.Arg82His)	REM1 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485096	NM_014012.6(REM1):c.301G>C (p.Ala101Pro)	REM1 (A101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363730	NM_014012.6(REM1):c.335T>C (p.Leu112Pro)	REM1 (L112P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152966	NM_014012.6(REM1):c.346G>A (p.Val116Ile)	REM1 (V116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371831	NM_014012.6(REM1):c.404C>G (p.Thr135Ser)	REM1 (T135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351095	NM_014012.6(REM1):c.415G>A (p.Glu139Lys)	REM1 (E139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542025	NM_014012.6(REM1):c.524T>C (p.Leu175Pro)	REM1 (L175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152968	NM_014012.6(REM1):c.539G>A (p.Arg180Gln)	REM1 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317845	NM_014012.6(REM1):c.571A>C (p.Ile191Leu)	REM1 (I191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207903	NM_014012.6(REM1):c.577G>A (p.Val193Met)	REM1 (V193M)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2271657	NM_014012.6(REM1):c.608G>A (p.Arg203Gln)	REM1 (R203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290188	NM_014012.6(REM1):c.643G>A (p.Val215Met)	REM1 (V215M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313602	NM_014012.6(REM1):c.667G>C (p.Glu223Gln)	REM1 (E223Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562224	NM_014012.6(REM1):c.706T>A (p.Phe236Ile)	REM1 (F236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729544	NM_014012.6(REM1):c.757A>G (p.Lys253Glu)	REM1 (K253E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3152969	NM_014012.6(REM1):c.763C>A (p.Pro255Thr)	REM1 (P255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313603	NM_014012.6(REM1):c.808C>A (p.Arg270Ser)	REM1 (R270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313601	NM_014012.6(REM1):c.832C>A (p.Arg278Ser)	REM1 (R278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479331	NM_014012.6(REM1):c.859G>A (p.Ala287Thr)	REM1 (A287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360167	NM_014012.6(REM1):c.887C>A (p.Ala296Asp)	REM1 (A296D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340492	GRCh37/hg19 20q11.21(chr20:29652122-30518304)x3	BCL2L1, COX4I2 +15 more	Copy number gain	not provided	GLikely benign
Select item 1340481	GRCh37/hg19 20q11.21(chr20:29833535-30195919)x3	DEFB115, DEFB116 +8 more	Copy number gain	not provided	GLikely benign
Select item 1340141	GRCh37/hg19 20q11.21(chr20:29652122-30272637)x3	BCL2L1, COX4I2 +10 more	Copy number gain	not provided	GLikely benign
Select item 979729	GRCh37/hg19 20q11.21(chr20:29833534-30494851)x3	DEFB115, DEFB123 +15 more	Copy number gain	not provided	GLikely benign
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816123	GRCh37/hg19 20q11.21(chr20:29651839-30195919)x3	REM1, DEFB116 +8 more	Copy number gain	not provided	GLikely benign
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 688778	GRCh37/hg19 20q11.21(chr20:29835457-30232565)x3	COX4I2, DEFB115 +9 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 446352	GRCh37/hg19 20q11.21(chr20:29425357-30226690)x3	COX4I2, DEFB115 +10 more	Copy number gain	See cases	GUncertain significance
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
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)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442379	GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3	BCL2L1, CCM2L +18 more	Copy number gain	See cases	GUncertain significance
Select item 395214	GRCh37/hg19 20q11.21(chr20:29877878-30231917)x3	COX4I2, DEFB116 +8 more	Copy number gain	See cases	GLikely benign
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 54