BRMS1[gene] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 707893	NM_015399.4(BRMS1):c.*205G>A	BRMS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2467455	NM_015399.4(BRMS1):c.*204C>T	BRMS1 (P288L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2341367	NM_015399.4(BRMS1):c.*183C>T	BRMS1 (S281L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135099	NM_015399.4(BRMS1):c.*150T>C	BRMS1 (L270P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3261846	NM_015399.4(BRMS1):c.*135C>T	BRMS1 (A265V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135098	NM_015399.4(BRMS1):c.*111C>T	BRMS1 (A257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205376	NM_015399.4(BRMS1):c.*81G>A	BRMS1 (R247Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135097	NM_015399.4(BRMS1):c.726A>T (p.Lys242Asn)	BRMS1 (K242N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597587	NM_015399.4(BRMS1):c.710C>T (p.Ser237Phe)	BRMS1 (S237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317356	NM_015399.4(BRMS1):c.703G>A (p.Ala235Thr)	BRMS1 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271881	NM_015399.4(BRMS1):c.689A>G (p.Lys230Arg)	BRMS1 (K230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301676	NM_015399.4(BRMS1):c.647T>C (p.Met216Thr)	BRMS1 (M216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362265	NM_015399.4(BRMS1):c.559G>A (p.Ala187Thr)	BRMS1 (A187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135096	NM_015399.4(BRMS1):c.547G>A (p.Asp183Asn)	BRMS1 (D183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366990	NM_015399.4(BRMS1):c.533C>T (p.Ser178Phe)	BRMS1 (S178F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776630	NM_015399.4(BRMS1):c.525C>T (p.Asp175=)	BRMS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2456258	NM_015399.4(BRMS1):c.512G>A (p.Arg171His)	BRMS1 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266869	NM_015399.4(BRMS1):c.472G>C (p.Gly158Arg)	BRMS1 (G158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261848	NM_015399.4(BRMS1):c.425A>C (p.Lys142Thr)	BRMS1 (K142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384113	NM_015399.4(BRMS1):c.373T>C (p.Phe125Leu)	BRMS1 (F125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620583	NM_015399.4(BRMS1):c.367A>G (p.Lys123Glu)	BRMS1 (K123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261847	NM_015399.4(BRMS1):c.361A>G (p.Ile121Val)	BRMS1 (I121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588674	NM_015399.4(BRMS1):c.317G>T (p.Gly106Val)	BRMS1 (G106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135094	NM_015399.4(BRMS1):c.265C>T (p.Arg89Trp)	BRMS1 (R89W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261845	NM_015399.4(BRMS1):c.260G>A (p.Arg87Gln)	BRMS1 (R87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471229	NM_015399.4(BRMS1):c.215C>T (p.Ser72Leu)	BRMS1 (S72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295435	NM_015399.4(BRMS1):c.210G>C (p.Gln70His)	BRMS1 (Q70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266518	NM_015399.4(BRMS1):c.187G>A (p.Glu63Lys)	BRMS1 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135093	NM_015399.4(BRMS1):c.158A>G (p.Tyr53Cys)	BRMS1 (Y53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135095	NM_015399.4(BRMS1):c.48G>T (p.Glu16Asp)	BRMS1 (E16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275363	NM_015399.4(BRMS1):c.44C>T (p.Ala15Val)	BRMS1 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425650	NC_000011.9:g.(?_66099747)_(66291373_?)dup	B4GAT1, BBS1 +7 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

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: 48