MRTFB[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +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 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 148416	GRCh38/hg38 16p13.12(chr16:14140498-14686337)x3	BFAR, LINC02130 +27 more	Copy number gain	See cases	GLikely benign
Select item 717395	NM_001308142.2(MRTFB):c.27C>T (p.Thr9=)	MRTFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3032078	NM_001308142.2(MRTFB):c.53A>T (p.His18Leu)	MRTFB (H18L)	Single nucleotide variant (missense variant)	MRTFB-related condition	GUncertain significance
Select item 710820	NM_001308142.2(MRTFB):c.141C>T (p.Asn47=)	MRTFB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1723884	NM_001308142.2(MRTFB):c.271G>C (p.Ala91Pro)	MRTFB (A20P +2 more)	Single nucleotide variant (missense variant)	MRTFB-Related Disorders	GPathogenic
Select item 1723883	NM_001308142.2(MRTFB):c.310C>G (p.Arg104Gly)	MRTFB (R104G +2 more)	Single nucleotide variant (missense variant)	MRTFB-Related Disorders	GPathogenic
Select item 2548122	NM_001308142.2(MRTFB):c.318T>G (p.Asp106Glu)	MRTFB (D106E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595532	NM_001308142.2(MRTFB):c.550G>A (p.Asp184Asn)	MRTFB (D113N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543277	NM_001308142.2(MRTFB):c.609G>C (p.Gln203His)	MRTFB (Q203H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034058	NM_001308142.2(MRTFB):c.683C>G (p.Thr228Ser)	MRTFB (T157S +2 more)	Single nucleotide variant (missense variant)	MRTFB-related condition	GUncertain significance
Select item 2472552	NM_001308142.2(MRTFB):c.712A>G (p.Thr238Ala)	MRTFB (T167A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2672618	NM_001308142.2(MRTFB):c.864C>A (p.His288Gln)	MRTFB (H217Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2595409	NM_001308142.2(MRTFB):c.1130C>T (p.Ala377Val)	LOC126862297, MRTFB (A306V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710575	NM_001308142.2(MRTFB):c.1192T>C (p.Ser398Pro)	LOC126862297, MRTFB (S387P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710612	NM_001308142.2(MRTFB):c.1317C>T (p.Ser439=)	MRTFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515301	NM_001308142.2(MRTFB):c.1333G>T (p.Gly445Cys)	MRTFB (G445C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610090	NM_001308142.2(MRTFB):c.1800G>A (p.Met600Ile)	MRTFB (M529I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619191	NM_001308142.2(MRTFB):c.1819C>G (p.Arg607Gly)	MRTFB (R596G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770789	NM_001308142.2(MRTFB):c.1929A>G (p.Ser643=)	MRTFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730801	NM_001308142.2(MRTFB):c.1939T>C (p.Cys647Arg)	MRTFB (C576R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2468098	NM_001308142.2(MRTFB):c.2308A>G (p.Thr770Ala)	MRTFB (T720A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 748459	NM_001308142.2(MRTFB):c.2367G>A (p.Pro789=)	MRTFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535861	NM_001308142.2(MRTFB):c.2387C>T (p.Pro796Leu)	MRTFB (P746L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604739	NM_001308142.2(MRTFB):c.2398A>G (p.Arg800Gly)	MRTFB (R679G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554242	NM_001308142.2(MRTFB):c.2650C>T (p.Arg884Cys)	MRTFB (R834C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 741656	NM_001308142.2(MRTFB):c.2772C>T (p.Ser924=)	MRTFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478373	NM_001308142.2(MRTFB):c.2888C>T (p.Ala963Val)	MRTFB (A892V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607626	NM_001308142.2(MRTFB):c.3119T>G (p.Phe1040Cys)	MRTFB (F994C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646239	NM_001308142.2(MRTFB):c.3243G>A (p.Pro1081=)	MRTFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522802	NM_001308142.2(MRTFB):c.3247A>G (p.Met1083Val)	MRTFB (M1012V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461142	NM_001308142.2(MRTFB):c.3279C>G (p.Asp1093Glu)	MRTFB (D1082E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063452	GRCh37/hg19 16p13.12(chr16:13950978-14176005)x3	ERCC4, MRTFB	Copy number gain	not specified	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 1526504	GRCh37/hg19 16p13.12(chr16:14347885-14386451)	MRTFB	Copy number loss	not specified	GUncertain significance
Select item 1449573	NC_000016.9:g.(?_13915808)_(14724045_?)dup	ERCC4, MRTFB +3 more	Duplication	Xeroderma pigmentosum, group F +2 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 688492	GRCh37/hg19 16p13.12(chr16:13108953-14168353)x3	ERCC4, MRTFB +1 more	Copy number gain	not provided	GUncertain significance
Select item 685529	GRCh37/hg19 16p13.12(chr16:14347885-14386451)x1	MRTFB	Copy number loss	not provided	GUncertain significance
Select item 564274	GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1	BFAR, CPPED1 +10 more	Copy number loss	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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
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: 54