SPATC1L[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 160

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59069	GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1	C21orf58, COL6A1 +52 more	Copy number loss	See cases	GPathogenic
Select item 148754	GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3	C21orf58, COL6A1 +44 more	Copy number gain	See cases	GLikely benign
Select item 153558	GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1	C21orf58, COL6A1 +50 more	Copy number loss	See cases	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 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 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 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 403468	NM_001142854.2(SPATC1L):c.893G>A (p.Ser298Asn)	SPATC1L (S298N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 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 812616	NM_001142854.2(SPATC1L):c.846C>G (p.Tyr282Ter)	SPATC1L (Y282* +1 more)	Single nucleotide variant (nonsense)	not provided	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 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 769141	NM_001142854.2(SPATC1L):c.808G>T (p.Val270Leu)	SPATC1L (V270L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 403469	NM_001142854.2(SPATC1L):c.691G>A (p.Glu231Lys)	SPATC1L (E231K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2652809	NM_001142854.2(SPATC1L):c.657C>T (p.Tyr219=)	SPATC1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 403470	NM_001142854.2(SPATC1L):c.577G>A (p.Ala193Thr)	SPATC1L (A193T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

<< First< Prev

Page of 2