"GeneDx"[submitter] AND "ASH1L"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 1315851	NM_018489.3(ASH1L):c.8809G>A (p.Asp2937Asn)	ASH1L (D2937N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253540	NM_018489.3(ASH1L):c.8683dup (p.Thr2895fs)	ASH1L (T2895fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2500599	NM_018489.3(ASH1L):c.8683del (p.Thr2895fs)	ASH1L (T2895fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1317002	NM_018489.3(ASH1L):c.8679A>T (p.Lys2893Asn)	ASH1L (K2893N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372967	NM_018489.3(ASH1L):c.8663T>C (p.Val2888Ala)	ASH1L (V2888A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367647	NM_018489.3(ASH1L):c.8570C>A (p.Pro2857His)	ASH1L (P2857H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500486	NM_018489.3(ASH1L):c.8564C>T (p.Ala2855Val)	ASH1L (A2855V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370653	NM_018489.3(ASH1L):c.8390A>G (p.Tyr2797Cys)	ASH1L (Y2797C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315728	NM_018489.3(ASH1L):c.8386C>T (p.Arg2796Cys)	ASH1L (R2796C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318428	NM_018489.3(ASH1L):c.8375T>C (p.Ile2792Thr)	ASH1L (I2792T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331161	NM_018489.3(ASH1L):c.8274C>A (p.Asp2758Glu)	ASH1L (D2758E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365667	NM_018489.3(ASH1L):c.8236C>G (p.Pro2746Ala)	ASH1L (P2746A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579834	NM_018489.3(ASH1L):c.8188C>G (p.Arg2730Gly)	ASH1L (R2730G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367410	NM_018489.3(ASH1L):c.8012G>T (p.Arg2671Leu)	ASH1L (R2671L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320995	NM_018489.3(ASH1L):c.7903A>G (p.Ile2635Val)	ASH1L (I2635V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318738	NM_018489.3(ASH1L):c.7901T>C (p.Met2634Thr)	ASH1L (M2634T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800743	NM_018489.3(ASH1L):c.7823G>A (p.Cys2608Tyr)	ASH1L (C2608Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706432	NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)	ASH1L (R2535* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2444732	NM_018489.3(ASH1L):c.7502A>G (p.Lys2501Arg)	ASH1L (K2501R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316052	NM_018489.3(ASH1L):c.7496A>G (p.Tyr2499Cys)	ASH1L (Y2499C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1800491	NM_018489.3(ASH1L):c.7420A>C (p.Lys2474Gln)	ASH1L (K2474Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446123	NM_018489.3(ASH1L):c.7370C>T (p.Ser2457Phe)	ASH1L (S2457F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316847	NM_018489.3(ASH1L):c.7361A>G (p.Tyr2454Cys)	ASH1L (Y2454C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3375545	NM_018489.3(ASH1L):c.7357T>G (p.Ser2453Ala)	ASH1L (S2453A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662746	NM_018489.3(ASH1L):c.7341T>G (p.Ile2447Met)	ASH1L (I2447M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503251	NM_018489.3(ASH1L):c.7252C>T (p.Arg2418Ter)	ASH1L (R2418* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2442664	NM_018489.3(ASH1L):c.7098G>A (p.Trp2366Ter)	ASH1L (W2366* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1684058	NM_018489.3(ASH1L):c.7051G>A (p.Glu2351Lys)	ASH1L (E2351K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52 +1 more	GUncertain significance
Select item 3364165	NM_018489.3(ASH1L):c.7031T>G (p.Met2344Arg)	ASH1L (M2344R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505777	NM_018489.3(ASH1L):c.7016C>A (p.Thr2339Asn)	ASH1L (T2339N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318578	NM_018489.3(ASH1L):c.6977A>G (p.Glu2326Gly)	ASH1L (E2326G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695854	NM_018489.3(ASH1L):c.6938C>T (p.Ser2313Phe)	ASH1L (S2313F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317483	NM_018489.3(ASH1L):c.6826C>T (p.Arg2276Ter)	ASH1L (R2276* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2505901	NM_018489.3(ASH1L):c.6798A>G (p.Gln2266=)	ASH1L	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2573978	NM_018489.3(ASH1L):c.6706C>T (p.Arg2236Trp)	ASH1L (R2236W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203656	NM_018489.3(ASH1L):c.6569A>G (p.His2190Arg)	ASH1L (H2190R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318609	NM_018489.3(ASH1L):c.6489G>T (p.Gly2163=)	ASH1L	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2529445	NM_018489.3(ASH1L):c.6446A>G (p.Glu2149Gly)	ASH1L (E2154G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1704190	NM_018489.3(ASH1L):c.6431G>A (p.Arg2144Gln)	ASH1L (R2144Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373538	NM_018489.3(ASH1L):c.6424C>G (p.Leu2142Val)	ASH1L (L2142V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372144	NM_018489.3(ASH1L):c.6358A>G (p.Asn2120Asp)	ASH1L (N2120D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340745	NM_018489.3(ASH1L):c.6356C>T (p.Pro2119Leu)	ASH1L (P2119L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316004	NM_018489.3(ASH1L):c.6217C>T (p.Arg2073Cys)	ASH1L (R2073C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581872	NM_018489.3(ASH1L):c.6194A>G (p.Asp2065Gly)	ASH1L (D2065G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428938	NM_018489.3(ASH1L):c.5956AAG[2] (p.Lys1988del)	ASH1L (K1988del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1704183	NM_018489.3(ASH1L):c.5918C>T (p.Ser1973Phe)	ASH1L (S1973F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3372412	NM_018489.3(ASH1L):c.5813A>T (p.Gln1938Leu)	ASH1L (Q1938L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318980	NM_018489.3(ASH1L):c.5725G>A (p.Glu1909Lys)	ASH1L (E1909K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363527	NM_018489.3(ASH1L):c.5592G>T (p.Met1864Ile)	ASH1L (M1864I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501501	NM_018489.3(ASH1L):c.5584G>C (p.Val1862Leu)	ASH1L (V1862L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316849	NM_018489.3(ASH1L):c.5555G>C (p.Arg1852Pro)	ASH1L (R1852P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804230	NM_018489.3(ASH1L):c.5308G>A (p.Val1770Ile)	ASH1L (V1770I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2259909	NM_018489.3(ASH1L):c.5291G>A (p.Ser1764Asn)	ASH1L (S1764N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1315663	NM_018489.3(ASH1L):c.5270G>A (p.Arg1757Gln)	ASH1L (R1757Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800557	NM_018489.3(ASH1L):c.5248G>C (p.Gly1750Arg)	ASH1L (G1750R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316845	NM_018489.3(ASH1L):c.5125T>C (p.Ser1709Pro)	ASH1L (S1709P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364268	NM_018489.3(ASH1L):c.5060C>T (p.Ser1687Phe)	ASH1L (S1687F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372649	NM_018489.3(ASH1L):c.4928G>C (p.Arg1643Pro)	ASH1L (R1643P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578263	NM_018489.3(ASH1L):c.4914C>G (p.Asp1638Glu)	ASH1L (D1638E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317076	NM_018489.3(ASH1L):c.4888A>G (p.Ser1630Gly)	ASH1L (S1630G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983364	NM_018489.3(ASH1L):c.4839C>G (p.Ser1613Arg)	ASH1L (S1613R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3368352	NM_018489.3(ASH1L):c.4835G>A (p.Gly1612Asp)	ASH1L (G1612D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366006	NM_018489.3(ASH1L):c.4728G>C (p.Gln1576His)	ASH1L (Q1576H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704771	NM_018489.3(ASH1L):c.4682C>G (p.Pro1561Arg)	ASH1L (P1561R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505701	NM_018489.3(ASH1L):c.4664A>G (p.Gln1555Arg)	ASH1L (Q1555R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320652	NM_018489.3(ASH1L):c.4603C>T (p.Arg1535Cys)	ASH1L (R1535C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620260	NM_018489.3(ASH1L):c.4579C>T (p.Arg1527Ter)	ASH1L (R1527*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1317140	NM_018489.3(ASH1L):c.4375C>T (p.Pro1459Ser)	ASH1L (P1459S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315607	NM_018489.3(ASH1L):c.4313A>G (p.Lys1438Arg)	ASH1L (K1438R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252349	NM_018489.3(ASH1L):c.4300C>A (p.Leu1434Ile)	ASH1L (L1434I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817414	NM_018489.3(ASH1L):c.4224_4225del (p.Tyr1409fs)	ASH1L (Y1409fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 711290	NM_018489.3(ASH1L):c.4200C>T (p.Tyr1400=)	ASH1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1315838	NM_018489.3(ASH1L):c.4199A>G (p.Tyr1400Cys)	ASH1L (Y1400C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582118	NM_018489.3(ASH1L):c.4096A>G (p.Met1366Val)	ASH1L (M1366V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371364	NM_018489.3(ASH1L):c.4048A>G (p.Arg1350Gly)	ASH1L (R1350G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317323	NM_018489.3(ASH1L):c.4045A>C (p.Lys1349Gln)	ASH1L (K1349Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318505	NM_018489.3(ASH1L):c.3973A>G (p.Asn1325Asp)	ASH1L (N1325D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503225	NM_018489.3(ASH1L):c.3935C>G (p.Pro1312Arg)	ASH1L (P1312R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662149	NM_018489.3(ASH1L):c.3755G>A (p.Cys1252Tyr)	ASH1L (C1252Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708684	NM_018489.3(ASH1L):c.3737A>G (p.Glu1246Gly)	ASH1L (E1246G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625522	NM_018489.3(ASH1L):c.3664_3667del (p.Lys1222fs)	ASH1L (K1222fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2581911	NM_018489.3(ASH1L):c.3659A>C (p.Gln1220Pro)	ASH1L (Q1220P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343544	NM_018489.3(ASH1L):c.3511_3513del (p.Pro1171del)	ASH1L (P1171del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1207168	NM_018489.3(ASH1L):c.3400C>T (p.Pro1134Ser)	ASH1L (P1134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707013	NM_018489.3(ASH1L):c.3317C>T (p.Pro1106Leu)	ASH1L (P1106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707775	NM_018489.3(ASH1L):c.3214G>A (p.Val1072Ile)	ASH1L (V1072I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316134	NM_018489.3(ASH1L):c.3200C>A (p.Pro1067His)	ASH1L (P1067H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698318	NM_018489.3(ASH1L):c.3190T>G (p.Ser1064Ala)	ASH1L (S1064A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574514	NM_018489.3(ASH1L):c.2651C>G (p.Ser884Cys)	ASH1L (S884C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318974	NM_018489.3(ASH1L):c.2629T>A (p.Phe877Ile)	ASH1L (F877I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368707	NM_018489.3(ASH1L):c.2480A>G (p.Lys827Arg)	ASH1L (K827R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370677	NM_018489.3(ASH1L):c.2291T>G (p.Ile764Ser)	ASH1L (I764S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327683	NM_018489.3(ASH1L):c.2268G>C (p.Glu756Asp)	ASH1L (E756D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422660	NM_018489.3(ASH1L):c.2255del (p.Asn752fs)	ASH1L (N752fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3252416	NM_018489.3(ASH1L):c.2221C>T (p.Leu741Phe)	ASH1L (L741F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318533	NM_018489.3(ASH1L):c.2165TGG[1] (p.Val723del)	ASH1L (V723del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1677665	NM_018489.3(ASH1L):c.2134dup (p.Arg712fs)	ASH1L (R712fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 52 +1 more	GPathogenic/Likely pathogenic
Select item 2573682	NM_018489.3(ASH1L):c.2125T>G (p.Leu709Val)	ASH1L (L709V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320738	NM_018489.3(ASH1L):c.2101A>G (p.Ser701Gly)	ASH1L (S701G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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