23013[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 3047959	NM_015001.3(SPEN):c.-1C>T	SPEN, SPEN-AS1	Single nucleotide variant (5 prime UTR variant)	SPEN-related disorder	GLikely benign
Select item 2638297	NM_015001.3(SPEN):c.24C>T (p.Leu8=)	SPEN, SPEN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690068	NM_015001.3(SPEN):c.70G>A (p.Glu24Lys)	SPEN, SPEN-AS1 (E24K)	Single nucleotide variant (missense variant +1 more)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2126807	NM_015001.3(SPEN):c.72G>C (p.Glu24Asp)	SPEN, SPEN-AS1 (E24D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1343198	NM_015001.3(SPEN):c.92G>A (p.Arg31His)	SPEN (R31H)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3038799	NM_015001.3(SPEN):c.93C>T (p.Arg31=)	SPEN	Single nucleotide variant (synonymous variant)	SPEN-related disorder	GLikely benign
Select item 1320457	NM_015001.3(SPEN):c.100A>G (p.Ser34Gly)	SPEN (S34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436299	NM_015001.3(SPEN):c.109A>G (p.Ile37Val)	SPEN (I37V)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 3255068	NM_015001.3(SPEN):c.275A>G (p.Asp92Gly)	SPEN (D92G)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2517900	NM_015001.3(SPEN):c.299G>A (p.Arg100His)	SPEN (R100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628658	NM_015001.3(SPEN):c.301A>G (p.Ser101Gly)	SPEN (S101G)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 2500429	NM_015001.3(SPEN):c.326G>A (p.Gly109Glu)	SPEN (G109E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2311667	NM_015001.3(SPEN):c.335G>C (p.Gly112Ala)	SPEN (G112A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638298	NM_015001.3(SPEN):c.351T>C (p.Gly117=)	SPEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2391426	NM_015001.3(SPEN):c.373C>T (p.Arg125Ter)	SPEN (R125*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2672323	NM_015001.3(SPEN):c.392G>A (p.Arg131Gln)	SPEN (R131Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334957	NM_015001.3(SPEN):c.393G>A (p.Arg131=)	SPEN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2254293	NM_015001.3(SPEN):c.403G>A (p.Gly135Arg)	SPEN (G135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638299	NM_015001.3(SPEN):c.404+1167C>T	SPEN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2380334	NM_015001.3(SPEN):c.418A>G (p.Arg140Gly)	SPEN (R140G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505710	NM_015001.3(SPEN):c.455A>C (p.His152Pro)	SPEN (H152P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3322155	NM_015001.3(SPEN):c.467C>T (p.Thr156Met)	SPEN (T156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686334	NM_015001.3(SPEN):c.478G>A (p.Asp160Asn)	SPEN (D160N)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2638300	NM_015001.3(SPEN):c.496G>A (p.Asp166Asn)	SPEN (D166N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2309375	NM_015001.3(SPEN):c.551A>G (p.Tyr184Cys)	SPEN (Y184C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3322139	NM_015001.3(SPEN):c.553G>A (p.Ala185Thr)	SPEN (A185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2638301	NM_015001.3(SPEN):c.560G>A (p.Arg187Gln)	SPEN (R187Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2387247	NM_015001.3(SPEN):c.577C>T (p.Arg193Cys)	SPEN (R193C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3322157	NM_015001.3(SPEN):c.581T>C (p.Phe194Ser)	SPEN (F194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723034	NM_015001.3(SPEN):c.634C>T (p.Pro212Ser)	SPEN (P212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709065	NM_015001.3(SPEN):c.685C>T (p.Arg229Ter)	SPEN (R229*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 2542974	NM_015001.3(SPEN):c.714G>C (p.Gln238His)	SPEN (Q238H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256107	NM_015001.3(SPEN):c.799A>G (p.Arg267Gly)	SPEN (R267G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
Select item 2638302	NM_015001.3(SPEN):c.834C>A (p.Ser278=)	SPEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692585	NM_015001.3(SPEN):c.862A>G (p.Ser288Gly)	SPEN (S288G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2312465	NM_015001.3(SPEN):c.879C>G (p.Asp293Glu)	SPEN (D293E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879077	NM_015001.3(SPEN):c.895AGT[1] (p.Ser302del)	SPEN (S302del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2550913	NM_015001.3(SPEN):c.905G>A (p.Ser302Asn)	SPEN (S302N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744144	NM_015001.3(SPEN):c.908A>G (p.Asp303Gly)	SPEN (D303G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2671904	NM_015001.3(SPEN):c.920C>G (p.Ala307Gly)	SPEN (A307G)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 1805886	NM_015001.3(SPEN):c.922C>T (p.Arg308Ter)	SPEN (R308*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 3253124	NM_015001.3(SPEN):c.956C>T (p.Thr319Ile)	SPEN (T319I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664874	NM_015001.3(SPEN):c.961C>T (p.Gln321Ter)	SPEN (Q321*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 2517069	NM_015001.3(SPEN):c.962A>G (p.Gln321Arg)	SPEN (Q321R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027163	NM_015001.3(SPEN):c.1133A>G (p.Tyr378Cys)	SPEN (Y378C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480266	NM_015001.3(SPEN):c.1151G>A (p.Arg384Gln)	SPEN (R384Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628383	NM_015001.3(SPEN):c.1166A>G (p.Gln389Arg)	SPEN (Q389R)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 1698196	NM_015001.3(SPEN):c.1167A>C (p.Gln389His)	SPEN (Q389H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317319	NM_015001.3(SPEN):c.1201T>C (p.Phe401Leu)	SPEN (F401L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710400	NM_015001.3(SPEN):c.1243+4A>G	SPEN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3058869	NM_015001.3(SPEN):c.1244-3C>A	SPEN	Single nucleotide variant (intron variant)	SPEN-related disorder	GBenign
Select item 3322141	NM_015001.3(SPEN):c.1304A>G (p.Lys435Arg)	SPEN (K435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577769	NM_015001.3(SPEN):c.1309A>G (p.Thr437Ala)	SPEN (T437A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496194	NM_015001.3(SPEN):c.1378C>T (p.Arg460Cys)	SPEN (R460C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044560	NM_015001.3(SPEN):c.1431G>A (p.Gln477=)	SPEN	Single nucleotide variant (synonymous variant)	SPEN-related disorder +1 more	GLikely benign
Select item 3168927	NM_015001.3(SPEN):c.1462A>G (p.Ser488Gly)	SPEN (S488G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279723	NM_015001.3(SPEN):c.1475C>G (p.Ala492Gly)	SPEN (A492G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723702	NM_015001.3(SPEN):c.1577C>T (p.Ser526Leu)	SPEN (S526L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638303	NM_015001.3(SPEN):c.1602A>T (p.Thr534=)	SPEN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 992599	NM_015001.3(SPEN):c.1603C>T (p.Arg535Ter)	SPEN (R535*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 2578563	NM_015001.3(SPEN):c.1605A>C (p.Arg535=)	SPEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2211756	NM_015001.3(SPEN):c.1618T>C (p.Tyr540His)	SPEN (Y540H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638304	NM_015001.3(SPEN):c.1624C>T (p.Pro542Ser)	SPEN (P542S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2585664	NM_015001.3(SPEN):c.1635+6C>T	SPEN	Single nucleotide variant (intron variant)	Radio-Tartaglia syndrome +1 more	GBenign
Select item 2631546	NM_015001.3(SPEN):c.1647C>G (p.Asp549Glu)	SPEN (D549E)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 716796	NM_015001.3(SPEN):c.1657G>A (p.Gly553Ser)	SPEN (G553S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2430922	NM_015001.3(SPEN):c.1703C>T (p.Ala568Val)	SPEN (A568V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230547	NM_015001.3(SPEN):c.1750-4A>T	SPEN	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2502742	NM_015001.3(SPEN):c.1766G>A (p.Arg589Gln)	SPEN (R589Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3168928	NM_015001.3(SPEN):c.1881C>A (p.Asn627Lys)	SPEN (N627K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502736	NM_015001.3(SPEN):c.1903A>G (p.Ser635Gly)	SPEN (S635G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630186	NM_015001.3(SPEN):c.1909C>T (p.Arg637Ter)	SPEN (R637*)	Single nucleotide variant (nonsense)	SPEN-related disorder	GLikely pathogenic
Select item 3058155	NM_015001.3(SPEN):c.1926T>C (p.Tyr642=)	SPEN	Single nucleotide variant (synonymous variant)	SPEN-related disorder	GLikely benign
Select item 2576179	NM_015001.3(SPEN):c.1934A>G (p.Asp645Gly)	SPEN (D645G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030427	NM_015001.3(SPEN):c.1940G>C (p.Arg647Thr)	SPEN (R647T)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 2572358	NM_015001.3(SPEN):c.1945del (p.Asp649fs)	SPEN (D649fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 3252096	NM_015001.3(SPEN):c.1967_1968del (p.Glu656fs)	SPEN (E656fs)	Microsatellite (frameshift variant)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 2380658	NM_015001.3(SPEN):c.1967A>G (p.Glu656Gly)	SPEN (E656G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992600	NM_015001.3(SPEN):c.2014C>T (p.Arg672Ter)	SPEN (R672*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1699614	NM_015001.3(SPEN):c.2017T>C (p.Tyr673His)	SPEN (Y673H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051252	NM_015001.3(SPEN):c.2022C>T (p.Tyr674=)	SPEN	Single nucleotide variant (synonymous variant)	SPEN-related disorder	GLikely benign
Select item 1690529	NM_015001.3(SPEN):c.2084A>G (p.Tyr695Cys)	SPEN (Y695C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 992601	NM_015001.3(SPEN):c.2101G>T (p.Glu701Ter)	SPEN (E701*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1329951	NM_015001.3(SPEN):c.2104C>T (p.Arg702Ter)	SPEN (R702*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 3025253	NM_015001.3(SPEN):c.2117G>A (p.Arg706His)	SPEN (R706H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2630129	NM_015001.3(SPEN):c.2136C>G (p.Asp712Glu)	SPEN (D712E)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance

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