29819[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 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 3210263	NM_001308142.2(MRTFB):c.4G>T (p.Asp2Tyr)	MRTFB (D2Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296163	NM_001308142.2(MRTFB):c.20T>C (p.Ile7Thr)	MRTFB (I7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717395	NM_001308142.2(MRTFB):c.27C>T (p.Thr9=)	MRTFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3210261	NM_001308142.2(MRTFB):c.37G>A (p.Val13Met)	MRTFB (V13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032078	NM_001308142.2(MRTFB):c.53A>T (p.His18Leu)	MRTFB (H18L)	Single nucleotide variant (missense variant)	MRTFB-related disorder	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 disorder	GPathogenic
Select item 1723883	NM_001308142.2(MRTFB):c.310C>G (p.Arg104Gly)	MRTFB (R104G +2 more)	Single nucleotide variant (missense variant)	MRTFB-related disorder	GPathogenic
Select item 2548122	NM_001308142.2(MRTFB):c.318T>G (p.Asp106Glu)	MRTFB (D106E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3345826	NM_001308142.2(MRTFB):c.479T>C (p.Leu160Pro)	MRTFB (L149P +2 more)	Single nucleotide variant (missense variant)	MRTFB-related disorder	GUncertain significance
Select item 2595532	NM_001308142.2(MRTFB):c.550G>A (p.Asp184Asn)	MRTFB (D113N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543277	NM_001308142.2(MRTFB):c.609G>C (p.Gln203His)	MRTFB (Q203H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210270	NM_001308142.2(MRTFB):c.631T>A (p.Ser211Thr)	MRTFB (S200T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296158	NM_001308142.2(MRTFB):c.659C>T (p.Ser220Leu)	MRTFB (S220L +2 more)	Single nucleotide variant (missense variant)	not specified	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 disorder	GUncertain significance
Select item 3210272	NM_001308142.2(MRTFB):c.689C>T (p.Ala230Val)	MRTFB (A159V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257495	NM_001308142.2(MRTFB):c.693+1G>T	MRTFB	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2472552	NM_001308142.2(MRTFB):c.712A>G (p.Thr238Ala)	MRTFB (T167A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210275	NM_001308142.2(MRTFB):c.761C>G (p.Pro254Arg)	MRTFB (P183R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210276	NM_001308142.2(MRTFB):c.763C>T (p.Arg255Trp)	MRTFB (R244W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210278	NM_001308142.2(MRTFB):c.857A>C (p.Asp286Ala)	MRTFB (D215A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3210282	NM_001308142.2(MRTFB):c.866G>A (p.Arg289His)	MRTFB (R278H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210285	NM_001308142.2(MRTFB):c.878G>T (p.Cys293Phe)	MRTFB (C222F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210129	NM_001308142.2(MRTFB):c.1020G>C (p.Gln340His)	MRTFB (Q269H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210130	NM_001308142.2(MRTFB):c.1039C>G (p.Gln347Glu)	MRTFB (Q276E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210133	NM_001308142.2(MRTFB):c.1091A>G (p.Asp364Gly)	LOC126862297, MRTFB (D293G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595409	NM_001308142.2(MRTFB):c.1130C>T (p.Ala377Val)	LOC126862297, MRTFB (A306V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210135	NM_001308142.2(MRTFB):c.1156A>G (p.Thr386Ala)	LOC126862297, MRTFB (T375A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210143	NM_001308142.2(MRTFB):c.1192T>G (p.Ser398Ala)	LOC126862297, MRTFB (S398A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710575	NM_001308142.2(MRTFB):c.1192T>C (p.Ser398Pro)	MRTFB, LOC126862297 (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 3210145	NM_001308142.2(MRTFB):c.1318G>A (p.Gly440Ser)	MRTFB (G429S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515301	NM_001308142.2(MRTFB):c.1333G>T (p.Gly445Cys)	MRTFB (G445C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296157	NM_001308142.2(MRTFB):c.1418C>A (p.Thr473Asn)	MRTFB (T402N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210150	NM_001308142.2(MRTFB):c.1439C>T (p.Thr480Ile)	MRTFB (T469I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210155	NM_001308142.2(MRTFB):c.1475A>G (p.Asn492Ser)	MRTFB (N481S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210163	NM_001308142.2(MRTFB):c.1483C>T (p.Arg495Cys)	MRTFB (R495C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210159	NM_001308142.2(MRTFB):c.1483C>A (p.Arg495Ser)	MRTFB (R495S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210170	NM_001308142.2(MRTFB):c.1486G>A (p.Val496Met)	MRTFB (V485M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296164	NM_001308142.2(MRTFB):c.1495G>A (p.Val499Ile)	MRTFB (V428I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210174	NM_001308142.2(MRTFB):c.1513A>C (p.Ile505Leu)	MRTFB (I434L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296159	NM_001308142.2(MRTFB):c.1561A>G (p.Asn521Asp)	MRTFB (N450D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210178	NM_001308142.2(MRTFB):c.1564A>G (p.Met522Val)	MRTFB (M511V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210181	NM_001308142.2(MRTFB):c.1565T>G (p.Met522Arg)	MRTFB (M451R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210184	NM_001308142.2(MRTFB):c.1574C>G (p.Thr525Ser)	MRTFB (T454S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210185	NM_001308142.2(MRTFB):c.1601C>T (p.Ser534Leu)	MRTFB (S523L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610090	NM_001308142.2(MRTFB):c.1800G>A (p.Met600Ile)	MRTFB (M529I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619191	NM_001308142.2(MRTFB):c.1819C>G (p.Arg607Gly)	MRTFB (R596G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296162	NM_001308142.2(MRTFB):c.1820G>A (p.Arg607Gln)	MRTFB (R536Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210194	NM_001308142.2(MRTFB):c.1835G>A (p.Arg612Gln)	MRTFB (R601Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210198	NM_001308142.2(MRTFB):c.1859C>T (p.Ala620Val)	MRTFB (A620V +2 more)	Single nucleotide variant (missense variant)	not specified	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 3210201	NM_001308142.2(MRTFB):c.1930C>T (p.Leu644Phe)	MRTFB (L644F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3210205	NM_001308142.2(MRTFB):c.2029G>C (p.Ala677Pro)	MRTFB (A666P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210209	NM_001308142.2(MRTFB):c.2078G>A (p.Ser693Asn)	MRTFB (S682N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210212	NM_001308142.2(MRTFB):c.2090A>G (p.Gln697Arg)	MRTFB (Q697R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468098	NM_001308142.2(MRTFB):c.2308A>G (p.Thr770Ala)	MRTFB (T720A +4 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2604739	NM_001308142.2(MRTFB):c.2398A>G (p.Arg800Gly)	MRTFB (R679G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210221	NM_001308142.2(MRTFB):c.2411C>T (p.Thr804Ile)	MRTFB (T754I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210225	NM_001308142.2(MRTFB):c.2415C>G (p.Asn805Lys)	MRTFB (N734K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210227	NM_001308142.2(MRTFB):c.2464G>A (p.Ala822Thr)	MRTFB (A811T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210231	NM_001308142.2(MRTFB):c.2511A>T (p.Gln837His)	MRTFB (Q716H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296160	NM_001308142.2(MRTFB):c.2525C>T (p.Pro842Leu)	MRTFB (P721L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210235	NM_001308142.2(MRTFB):c.2537T>C (p.Leu846Pro)	MRTFB (L846P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210236	NM_001308142.2(MRTFB):c.2596G>T (p.Val866Phe)	MRTFB (V866F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210239	NM_001308142.2(MRTFB):c.2629G>A (p.Ala877Thr)	MRTFB (A806T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2554242	NM_001308142.2(MRTFB):c.2650C>T (p.Arg884Cys)	MRTFB (R834C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210248	NM_001308142.2(MRTFB):c.2663C>T (p.Ala888Val)	MRTFB (A877V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296161	NM_001308142.2(MRTFB):c.2684C>T (p.Thr895Ile)	MRTFB (T845I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210249	NM_001308142.2(MRTFB):c.2711A>C (p.Asn904Thr)	MRTFB (N783T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210250	NM_001308142.2(MRTFB):c.2746A>G (p.Ile916Val)	MRTFB (I845V +5 more)	Single nucleotide variant (missense variant)	not specified	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 3210251	NM_001308142.2(MRTFB):c.2870C>T (p.Pro957Leu)	MRTFB (P836L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478373	NM_001308142.2(MRTFB):c.2888C>T (p.Ala963Val)	MRTFB (A892V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210255	NM_001308142.2(MRTFB):c.2911A>C (p.Met971Leu)	MRTFB (M960L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607626	NM_001308142.2(MRTFB):c.3119T>G (p.Phe1040Cys)	MRTFB (F994C +5 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2461142	NM_001308142.2(MRTFB):c.3279C>G (p.Asp1093Glu)	MRTFB (D1082E +5 more)	Single nucleotide variant (missense variant)	not specified	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, MIR193B +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	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic

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