29308[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 2500706	NC_000012.12:g.132237283_132491257dup	FBRSL1, GALNT9 +16 more	Duplication	not specified	GUncertain significance
Select item 3093462	NM_001367871.1(FBRSL1):c.46G>A (p.Asp16Asn)	FBRSL1 (D16N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093468	NM_001367871.1(FBRSL1):c.80C>T (p.Ala27Val)	FBRSL1 (A27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278026	NM_001367871.1(FBRSL1):c.83G>A (p.Arg28His)	FBRSL1 (R28H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526858	NM_001367871.1(FBRSL1):c.94C>T (p.Pro32Ser)	FBRSL1 (P32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443335	NM_001367871.1(FBRSL1):c.115G>T (p.Glu39Ter)	FBRSL1 (E39*)	Single nucleotide variant (nonsense +1 more)	See cases	GLikely benign
Select item 2492228	NM_001367871.1(FBRSL1):c.119C>T (p.Pro40Leu)	FBRSL1 (P40L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093435	NM_001367871.1(FBRSL1):c.158C>T (p.Pro53Leu)	FBRSL1 (P53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256812	NM_001367871.1(FBRSL1):c.158C>A (p.Pro53His)	FBRSL1 (P53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093437	NM_001367871.1(FBRSL1):c.161C>G (p.Pro54Arg)	FBRSL1 (P54R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357116	NM_001367871.1(FBRSL1):c.169G>A (p.Ala57Thr)	FBRSL1 (A57T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278018	NM_001367871.1(FBRSL1):c.170C>T (p.Ala57Val)	FBRSL1 (A57V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590404	NM_001367871.1(FBRSL1):c.172G>A (p.Ala58Thr)	FBRSL1 (A58T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2213028	NM_001367871.1(FBRSL1):c.212G>A (p.Arg71His)	FBRSL1 (R71H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093459	NM_001367871.1(FBRSL1):c.337C>T (p.Arg113Cys)	FBRSL1 (R113C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093460	NM_001367871.1(FBRSL1):c.358C>G (p.Arg120Gly)	FBRSL1 (R120G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093461	NM_001367871.1(FBRSL1):c.377C>T (p.Pro126Leu)	FBRSL1 (P126L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517561	NM_001367871.1(FBRSL1):c.379C>T (p.Pro127Ser)	FBRSL1 (P127S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2271193	NM_001367871.1(FBRSL1):c.379C>G (p.Pro127Ala)	FBRSL1 (P127A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2633161	NM_001367871.1(FBRSL1):c.430C>T (p.Gln144Ter)	FBRSL1 (Q144* +1 more)	Single nucleotide variant (nonsense +1 more)	FBRSL1-related disorder	GUncertain significance
Select item 2265156	NM_001367871.1(FBRSL1):c.446C>T (p.Ala149Val)	FBRSL1 (A149V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393350	NM_001367871.1(FBRSL1):c.458C>T (p.Ala153Val)	FBRSL1 (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093463	NM_001367871.1(FBRSL1):c.488A>G (p.Gln163Arg)	FBRSL1 (Q163R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643643	NM_001367871.1(FBRSL1):c.489+1139C>T	FBRSL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643644	NM_001367871.1(FBRSL1):c.489+1799G>A	FBRSL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643645	NM_001367871.1(FBRSL1):c.489+2042A>G	FBRSL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2346507	NM_001367871.1(FBRSL1):c.502G>A (p.Val168Met)	FBRSL1 (V168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323253	NM_001367871.1(FBRSL1):c.514G>A (p.Gly172Ser)	FBRSL1 (G172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093464	NM_001367871.1(FBRSL1):c.517G>A (p.Asp173Asn)	FBRSL1 (D173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218168	NM_001367871.1(FBRSL1):c.521G>A (p.Arg174Gln)	FBRSL1 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468110	NM_001367871.1(FBRSL1):c.563G>A (p.Arg188Gln)	FBRSL1 (R188Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304435	NM_001367871.1(FBRSL1):c.569C>T (p.Pro190Leu)	FBRSL1 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145844	GRCh38/hg38 12q24.33(chr12:132562876-132588256)x3	FBRSL1, MIR6763	Copy number gain	See cases	GLikely benign
Select item 2360070	NM_001367871.1(FBRSL1):c.685G>A (p.Asp229Asn)	FBRSL1 (D229N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206732	NM_001367871.1(FBRSL1):c.705G>C (p.Glu235Asp)	FBRSL1 (E235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614464	NM_001367871.1(FBRSL1):c.721G>T (p.Ala241Ser)	FBRSL1 (A241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093466	NM_001367871.1(FBRSL1):c.736A>C (p.Lys246Gln)	FBRSL1 (K246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402691	NM_001367871.1(FBRSL1):c.761G>A (p.Arg254His)	FBRSL1 (R254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093467	NM_001367871.1(FBRSL1):c.763G>A (p.Glu255Lys)	FBRSL1 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543215	NM_001367871.1(FBRSL1):c.772G>A (p.Ala258Thr)	FBRSL1 (A258T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513771	NM_001367871.1(FBRSL1):c.775G>A (p.Glu259Lys)	FBRSL1 (E259K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358576	NM_001367871.1(FBRSL1):c.803C>T (p.Ala268Val)	FBRSL1 (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093469	NM_001367871.1(FBRSL1):c.814G>A (p.Ala272Thr)	FBRSL1 (A272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322648	NM_001367871.1(FBRSL1):c.815C>T (p.Ala272Val)	FBRSL1 (A272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393440	NM_001367871.1(FBRSL1):c.826G>A (p.Gly276Arg)	FBRSL1 (G276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523003	NM_001367871.1(FBRSL1):c.833C>T (p.Pro278Leu)	FBRSL1 (P278L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093470	NM_001367871.1(FBRSL1):c.838G>A (p.Gly280Ser)	FBRSL1 (G280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046268	NM_001367871.1(FBRSL1):c.845G>A (p.Arg282His)	FBRSL1 (R282H)	Single nucleotide variant (missense variant)	FBRSL1-related disorder	GLikely benign
Select item 2374484	NM_001367871.1(FBRSL1):c.850A>G (p.Asn284Asp)	FBRSL1 (N284D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473357	NM_001367871.1(FBRSL1):c.871C>A (p.Pro291Thr)	FBRSL1 (P291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643646	NM_001367871.1(FBRSL1):c.876C>T (p.Pro292=)	FBRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421644	NM_001367871.1(FBRSL1):c.885_899dup (p.Pro299_Gln300insHisArgHisThrPro)	FBRSL1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2524426	NM_001367871.1(FBRSL1):c.887G>A (p.Arg296His)	FBRSL1 (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361016	NM_001367871.1(FBRSL1):c.892A>G (p.Thr298Ala)	FBRSL1 (T298A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595279	NM_001367871.1(FBRSL1):c.902C>T (p.Pro301Leu)	FBRSL1 (P301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621001	NM_001367871.1(FBRSL1):c.916C>T (p.Pro306Ser)	FBRSL1 (P306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347582	NM_001367871.1(FBRSL1):c.919C>T (p.Arg307Cys)	FBRSL1 (R307C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548909	NM_001367871.1(FBRSL1):c.922G>A (p.Gly308Ser)	FBRSL1 (G308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261762	NM_001367871.1(FBRSL1):c.958G>A (p.Ala320Thr)	FBRSL1 (A320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643647	NM_001367871.1(FBRSL1):c.966G>A (p.Ala322=)	FBRSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616774	NM_001367871.1(FBRSL1):c.967G>A (p.Gly323Ser)	FBRSL1 (G323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327436	NM_001367871.1(FBRSL1):c.1054T>C (p.Ser352Pro)	FBRSL1 (S352P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093433	NM_001367871.1(FBRSL1):c.1103G>A (p.Arg368Gln)	FBRSL1 (R368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373407	NM_001367871.1(FBRSL1):c.1129G>A (p.Ala377Thr)	FBRSL1 (A377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282266	NM_001367871.1(FBRSL1):c.1159C>T (p.Pro387Ser)	FBRSL1 (P387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643648	NM_001367871.1(FBRSL1):c.1326G>A (p.Pro442=)	FBRSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604449	NM_001367871.1(FBRSL1):c.1377+81G>A	FBRSL1 (E407K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304019	NM_001367871.1(FBRSL1):c.1377+108C>T	FBRSL1 (R416W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406369	NM_001367871.1(FBRSL1):c.1377+154C>T	FBRSL1 (P431L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493846	NM_001367871.1(FBRSL1):c.1377+172C>A	FBRSL1 (A437E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594071	NM_001367871.1(FBRSL1):c.1377+268C>T	FBRSL1 (P469L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521590	NM_001367871.1(FBRSL1):c.1377+289C>T	FBRSL1 (P476L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568640	NM_001367871.1(FBRSL1):c.1377+292C>T	FBRSL1 (P477L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384294	NM_001367871.1(FBRSL1):c.1418G>T (p.Arg473Leu)	FBRSL1 (R473L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240661	NM_001367871.1(FBRSL1):c.1418G>A (p.Arg473Gln)	FBRSL1 (R473Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347581	NM_001367871.1(FBRSL1):c.1475C>A (p.Thr492Asn)	FBRSL1 (T492N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217388	NM_001367871.1(FBRSL1):c.1501G>A (p.Gly501Arg)	FBRSL1 (G501R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 982214	NM_001367871.1(FBRSL1):c.1522C>G (p.Gln508Glu)	FBRSL1 (Q508E +1 more)	Single nucleotide variant (missense variant +1 more)	Moyamoya angiopathy	GLikely pathogenic
Select item 3093436	NM_001367871.1(FBRSL1):c.1615C>T (p.Arg539Trp)	FBRSL1 (R534W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384697	NM_001367871.1(FBRSL1):c.1616G>A (p.Arg539Gln)	FBRSL1 (R539Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594521	NM_001367871.1(FBRSL1):c.1629+23C>T	FBRSL1 (P546L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2375956	NM_001367871.1(FBRSL1):c.1629+50C>T	FBRSL1 (P555L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386750	NM_001367871.1(FBRSL1):c.1629+71G>A	FBRSL1 (R562H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363596	NM_001367871.1(FBRSL1):c.1630-18G>A	FBRSL1 (A581T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643649	NM_001367871.1(FBRSL1):c.1656C>T (p.His552=)	FBRSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2290394	NM_001367871.1(FBRSL1):c.1681C>T (p.Arg561Cys)	FBRSL1 (R561C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 2262100	NM_001367871.1(FBRSL1):c.1703A>C (p.Glu568Ala)	FBRSL1 (E586A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349594	NM_001367871.1(FBRSL1):c.1709A>G (p.Gln570Arg)	FBRSL1 (Q588R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093438	NM_001367871.1(FBRSL1):c.1769C>T (p.Ala590Val)	FBRSL1 (A633V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346474	NM_001367871.1(FBRSL1):c.1777G>A (p.Val593Met)	FBRSL1 (V593M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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