ClinVar for Gene (Select 84221) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 160

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322013	NM_001142854.2(SPATC1L):c.473C>T (p.Pro158Leu)	SPATC1L (P158L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322012	NM_001142854.2(SPATC1L):c.580C>T (p.Arg194Cys)	SPATC1L (R40C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322011	NM_001142854.2(SPATC1L):c.64G>A (p.Val22Met)	SPATC1L (V22M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322010	NM_001142854.2(SPATC1L):c.928G>A (p.Val310Met)	SPATC1L (V310M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322009	NM_001142854.2(SPATC1L):c.28C>T (p.Arg10Trp)	SPATC1L (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	ADARB1, AIRE +44 more	Duplication	not provided	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3168671	NM_001142854.2(SPATC1L):c.911G>A (p.Arg304His)	SPATC1L (R150H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168669	NM_001142854.2(SPATC1L):c.863G>A (p.Arg288Gln)	SPATC1L (R288Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168668	NM_001142854.2(SPATC1L):c.803G>A (p.Arg268His)	SPATC1L (R114H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168667	NM_001142854.2(SPATC1L):c.757C>T (p.Arg253Cys)	SPATC1L (R253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168666	NM_001142854.2(SPATC1L):c.700T>C (p.Ser234Pro)	SPATC1L (S234P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168665	NM_001142854.2(SPATC1L):c.689T>C (p.Ile230Thr)	SPATC1L (I230T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168664	NM_001142854.2(SPATC1L):c.655T>C (p.Tyr219His)	SPATC1L (Y65H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168663	NM_001142854.2(SPATC1L):c.629A>G (p.Tyr210Cys)	SPATC1L (Y210C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168662	NM_001142854.2(SPATC1L):c.616C>T (p.Arg206Cys)	SPATC1L (R206C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168661	NM_001142854.2(SPATC1L):c.565G>A (p.Ala189Thr)	SPATC1L (A189T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168659	NM_001142854.2(SPATC1L):c.469C>T (p.Arg157Trp)	SPATC1L (R3W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168658	NM_001142854.2(SPATC1L):c.458G>C (p.Arg153Thr)	SPATC1L (R153T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168657	NM_001142854.2(SPATC1L):c.311C>T (p.Pro104Leu)	SPATC1L (P104L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168656	NM_001142854.2(SPATC1L):c.277C>T (p.His93Tyr)	SPATC1L (H93Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168655	NM_001142854.2(SPATC1L):c.245A>C (p.Gln82Pro)	SPATC1L (Q82P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2652810	NM_001142854.2(SPATC1L):c.40G>A (p.Glu14Lys)	SPATC1L (E14K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2652809	NM_001142854.2(SPATC1L):c.657C>T (p.Tyr219=)	SPATC1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598844	NM_001142854.2(SPATC1L):c.549C>G (p.Ile183Met)	SPATC1L (I183M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593866	NM_001142854.2(SPATC1L):c.313G>A (p.Gly105Ser)	SPATC1L (G105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556972	NM_001142854.2(SPATC1L):c.592G>A (p.Glu198Lys)	SPATC1L (E44K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544509	NM_001142854.2(SPATC1L):c.542A>G (p.Asn181Ser)	SPATC1L (N27S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534637	NM_001142854.2(SPATC1L):c.892A>G (p.Ser298Gly)	SPATC1L (S144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521024	NM_001142854.2(SPATC1L):c.881A>T (p.Asn294Ile)	SPATC1L (N140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519361	NM_001142854.2(SPATC1L):c.498C>G (p.Ser166Arg)	SPATC1L (S12R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518140	NM_001142854.2(SPATC1L):c.742C>T (p.Arg248Cys)	SPATC1L (R248C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509233	NM_001142854.2(SPATC1L):c.46G>A (p.Ala16Thr)	SPATC1L (A16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463622	NM_001142854.2(SPATC1L):c.818C>T (p.Ala273Val)	SPATC1L (A273V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2403871	NM_001142854.2(SPATC1L):c.491C>T (p.Ser164Leu)	SPATC1L (S164L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401342	NM_001142854.2(SPATC1L):c.1015G>A (p.Ala339Thr)	SPATC1L (A185T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389340	NM_001142854.2(SPATC1L):c.558C>A (p.Phe186Leu)	SPATC1L (F32L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381890	NM_001142854.2(SPATC1L):c.358C>T (p.Pro120Ser)	SPATC1L (P120S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377620	NM_001142854.2(SPATC1L):c.230C>T (p.Thr77Met)	SPATC1L (T77M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360556	NM_001142854.2(SPATC1L):c.98G>A (p.Arg33Gln)	SPATC1L (R33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307582	NM_001142854.2(SPATC1L):c.767C>T (p.Ala256Val)	SPATC1L (A256V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265463	NM_001142854.2(SPATC1L):c.922A>G (p.Ile308Val)	SPATC1L (I154V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251510	NM_001142854.2(SPATC1L):c.826G>A (p.Glu276Lys)	SPATC1L (E122K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243415	NM_001142854.2(SPATC1L):c.779G>T (p.Arg260Leu)	SPATC1L (R106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227169	NM_001142854.2(SPATC1L):c.215C>T (p.Thr72Met)	SPATC1L (T72M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809284	GRCh37/hg19 21q22.3(chr21:47563980-48097372)x3	C21orf58, DIP2A +8 more	Copy number gain	not provided	GUncertain significance
Select item 1809258	GRCh37/hg19 21q22.3(chr21:46882064-47963149)x3	C21orf58, COL18A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808038	GRCh37/hg19 21q22.3(chr21:47500415-48097372)x1	C21orf58, COL6A2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1701429	GRCh37/hg19 21q22.3(chr21:47533920-48084286)x1	SPATC1L, YBEY +9 more	Copy number loss	not provided	GPathogenic
Select item 1526725	GRCh37/hg19 21q22.3(chr21:45773272-48097372)	ADARB1, C21orf58 +42 more	Copy number loss	not specified	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1455754	NC_000021.8:g.(?_47401765)_(47705200_?)del	COL6A1, COL6A2 +4 more	Deletion	not provided	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1443554	NC_000021.8:g.(?_47531391)_(47666820_?)dup	COL6A2, FTCD +3 more	Duplication	not provided	GUncertain significance
Select item 1412950	NC_000021.8:g.(?_46306283)_(47865240_?)del	ADARB1, C21orf58 +17 more	Deletion	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	ABCG1, ADARB1 +74 more	Duplication	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1341057	GRCh37/hg19 21q22.3(chr21:47515748-47797894)x3	C21orf58, COL6A2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340500	GRCh37/hg19 21q22.3(chr21:46922436-48097372)x3	C21orf58, COL18A1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980241	GRCh37/hg19 21q22.3(chr21:47279953-48097372)x3	C21orf58, COL6A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816184	GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1	C21orf58, COL18A1 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 816180	GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1	ADARB1, C21orf58 +41 more	Copy number loss	not provided	GUncertain significance
Select item 816179	GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1	ADARB1, AIRE +50 more	Copy number loss	not provided	GLikely pathogenic
Select item 816178	GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1	ADARB1, AGPAT3 +54 more	Copy number loss	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 812616	NM_001142854.2(SPATC1L):c.846C>G (p.Tyr282Ter)	SPATC1L (Y282* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 769141	NM_001142854.2(SPATC1L):c.808G>T (p.Val270Leu)	SPATC1L (V270L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564657	GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3	C21orf58, DIP2A +6 more	Copy number gain	not provided	GUncertain significance
Select item 560066	Single allele	ADARB1, C21orf58 +19 more	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2