RGMA[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057971, LOC130057972 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC130057962, LOC130057963 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130058025, LOC130058026 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	ABHD2, ACAN +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 59385	GRCh38/hg38 15q26.1(chr15:92170113-93438995)x1	C15orf32, CHASERR +48 more	Copy number loss	See cases	GPathogenic
Select item 151033	GRCh38/hg38 15q26.1(chr15:92900864-93043584)x1	CHD2, LOC126862227 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 2214581	NM_020211.3(RGMA):c.1322C>T (p.Pro441Leu)	RGMA (P425L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2461603	NM_020211.3(RGMA):c.1318G>A (p.Val440Ile)	RGMA (V448I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2520303	NM_020211.3(RGMA):c.1238T>C (p.Leu413Pro)	RGMA (L421P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525147	NM_020211.3(RGMA):c.1166A>G (p.Asn389Ser)	RGMA (N373S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309371	NM_020211.3(RGMA):c.1058A>G (p.Glu353Gly)	RGMA (E337G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510499	NM_020211.3(RGMA):c.1057G>A (p.Glu353Lys)	RGMA (E353K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249761	NM_020211.3(RGMA):c.1037G>T (p.Ser346Ile)	RGMA (S346I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620567	NM_020211.3(RGMA):c.970C>G (p.Gln324Glu)	RGMA (Q332E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712174	NM_020211.3(RGMA):c.924C>T (p.Asp308=)	RGMA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260640	NM_020211.3(RGMA):c.748G>A (p.Gly250Ser)	RGMA (G234S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406779	NM_020211.3(RGMA):c.711C>G (p.Asp237Glu)	RGMA (D245E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275725	NM_020211.3(RGMA):c.706A>G (p.Met236Val)	RGMA (M236V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356859	NM_020211.3(RGMA):c.530G>A (p.Arg177His)	RGMA (R161H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477911	NM_020211.3(RGMA):c.515G>A (p.Arg172Lys)	RGMA (R172K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399036	NM_020211.3(RGMA):c.482C>T (p.Thr161Met)	RGMA (T169M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286242	NM_020211.3(RGMA):c.464C>T (p.Ser155Leu)	RGMA (S139L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491826	NM_020211.3(RGMA):c.383C>T (p.Thr128Met)	RGMA (T136M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518647	NM_020211.3(RGMA):c.371C>T (p.Pro124Leu)	RGMA (P108L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291906	NM_020211.3(RGMA):c.316A>G (p.Ile106Val)	RGMA (I114V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366687	NM_020211.3(RGMA):c.307G>A (p.Val103Ile)	RGMA (V87I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494132	NM_020211.3(RGMA):c.220G>A (p.Glu74Lys)	RGMA (E58K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476153	NM_020211.3(RGMA):c.154A>C (p.Lys52Gln)	RGMA (K36Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 149938	GRCh38/hg38 15q26.1(chr15:93070246-93607464)x3	LOC105370980, RGMA	Copy number gain	See cases	GUncertain significance
Select item 2233872	NM_020211.3(RGMA):c.74G>C (p.Arg25Pro)	RGMA (R33P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345098	NM_020211.3(RGMA):c.67G>A (p.Ala23Thr)	RGMA (A23T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549431	NM_020211.3(RGMA):c.62G>A (p.Arg21Lys)	RGMA (R29K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482886	NM_020211.3(RGMA):c.55A>G (p.Met19Val)	RGMA (M27V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288852	NM_020211.3(RGMA):c.40G>A (p.Ala14Thr)	RGMA (A22T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298077	NM_020211.3(RGMA):c.23T>C (p.Leu8Pro)	RGMA (L8P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 709915	NM_020211.3(RGMA):c.15-686T>C	RGMA	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2283122	NM_020211.3(RGMA):c.15-695A>C	RGMA (T11P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396978	NM_020211.3(RGMA):c.15-713G>A	RGMA (G5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063395	GRCh37/hg19 15q26.1(chr15:93531889-93588745)x1	CHD2, RGMA	Copy number loss	not specified	GPathogenic
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	SEC11A, SELENOS +86 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815749	GRCh37/hg19 15q26.1(chr15:93451635-93885876)x3	CHD2, RGMA	Copy number gain	not provided	GUncertain significance
Select item 815748	GRCh37/hg19 15q26.1(chr15:93373121-93747449)x3	RGMA, CHD2	Copy number gain	not provided	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 689297	GRCh37/hg19 15q26.1(chr15:93601771-94043109)x3	RGMA	Copy number gain	not provided	GUncertain significance
Select item 688563	GRCh37/hg19 15q26.1(chr15:93498365-93714012)x3	CHD2, RGMA	Copy number gain	not provided	GUncertain significance
Select item 687287	GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1	BLM, C15orf32 +14 more	Copy number loss	not provided	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443865	GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3	ADAMTS17, ALDH1A3 +26 more	Copy number gain	See cases	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	SV2B, TICRR +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253671	GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	ALDH1A3, SNRPA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 78