55870[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 767

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	SCARNA3, SCARNA4 +1587 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	LOC106627981, LOC106627982 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 659609	NC_000001.11:g.(?_155324845)_(155482449_?)del	ASH1L, LOC129388611 +3 more	Deletion	not provided	GPathogenic
Select item 3049596	NM_018489.3(ASH1L):c.8887C>T (p.Arg2963Ter)	ASH1L (R2963* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 52 +1 more	GConflicting classifications of pathogenicity
Select item 2439231	NM_018489.3(ASH1L):c.8871C>G (p.Ile2957Met)	ASH1L (I2957M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 446513	NM_018489.3(ASH1L):c.8854dup (p.Arg2952fs)	ASH1L (R2952fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 52	GPathogenic
Select item 3777349	NM_018489.3(ASH1L):c.8851C>T (p.Arg2951Ter)	ASH1L (R2951* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3067850	NM_018489.3(ASH1L):c.8812G>A (p.Val2938Met)	ASH1L (V2938M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	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 3892988	NM_018489.3(ASH1L):c.8803+5G>A	ASH1L	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2429979	NM_018489.3(ASH1L):c.8771T>C (p.Leu2924Pro)	ASH1L (L2924P +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 3603288	NM_018489.3(ASH1L):c.8765T>A (p.Ile2922Asn)	ASH1L (I2922N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 3130340	NM_018489.3(ASH1L):c.8746C>T (p.Arg2916Trp)	ASH1L (R2916W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239290	NM_018489.3(ASH1L):c.8723C>A (p.Pro2908His)	ASH1L (P2908H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688612	NM_018489.3(ASH1L):c.8693G>A (p.Ser2898Asn)	ASH1L (S2898N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2639404	NM_018489.3(ASH1L):c.8685A>C (p.Thr2895=)	ASH1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3769397	NM_018489.3(ASH1L):c.8679A>C (p.Lys2893Asn)	ASH1L (K2893N +1 more)	Single nucleotide variant (missense variant)	not specified	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 2507815	NM_018489.3(ASH1L):c.8662G>A (p.Val2888Ile)	ASH1L (V2893I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2310431	NM_018489.3(ASH1L):c.8657C>T (p.Ala2886Val)	ASH1L (A2886V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3777436	NM_018489.3(ASH1L):c.8651C>A (p.Ala2884Asp)	ASH1L (A2884D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033494	NM_018489.3(ASH1L):c.8642G>T (p.Arg2881Leu)	ASH1L (R2881L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2439242	NM_018489.3(ASH1L):c.8641C>T (p.Arg2881Trp)	ASH1L (R2881W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2267804	NM_018489.3(ASH1L):c.8575A>C (p.Ile2859Leu)	ASH1L (I2859L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2504165	NM_018489.3(ASH1L):c.8522G>A (p.Arg2841His)	ASH1L (R2841H +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3250615	NM_018489.3(ASH1L):c.8519A>C (p.Glu2840Ala)	ASH1L (E2840A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3436077	NM_018489.3(ASH1L):c.8500C>T (p.Arg2834Ter)	ASH1L (R2834* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 3359356	NM_018489.3(ASH1L):c.8489G>A (p.Arg2830Lys)	ASH1L (R2830K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977332	NM_018489.3(ASH1L):c.8487G>T (p.Lys2829Asn)	ASH1L (K2829N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 3130337	NM_018489.3(ASH1L):c.8482_8484del (p.Tyr2828del)	ASH1L (Y2828del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1878257	NM_018489.3(ASH1L):c.8460+11T>C	ASH1L	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1033493	NM_018489.3(ASH1L):c.8447A>G (p.Lys2816Arg)	ASH1L (K2821R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 3130336	NM_018489.3(ASH1L):c.8446A>C (p.Lys2816Gln)	ASH1L (K2816Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639405	NM_018489.3(ASH1L):c.8414C>T (p.Ala2805Val)	ASH1L (A2805V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627263	NM_018489.3(ASH1L):c.8392C>G (p.Pro2798Ala)	ASH1L (P2798A +1 more)	Single nucleotide variant (missense variant)	not specified	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 2552782	NM_018489.3(ASH1L):c.8387G>A (p.Arg2796His)	ASH1L (R2796H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431644	NM_018489.3(ASH1L):c.8386C>A (p.Arg2796Ser)	ASH1L (R2796S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	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 446517	NM_018489.3(ASH1L):c.8356G>C (p.Ala2786Pro)	ASH1L (A2786P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GPathogenic
Select item 3436035	NM_018489.3(ASH1L):c.8351A>G (p.Lys2784Arg)	ASH1L (K2784R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024335	NM_018489.3(ASH1L):c.8342G>A (p.Arg2781Gln)	ASH1L (R2781Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1675381	NM_018489.3(ASH1L):c.8337T>C (p.Asp2779=)	ASH1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3130335	NM_018489.3(ASH1L):c.8303A>G (p.Lys2768Arg)	ASH1L (K2773R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604167	NM_018489.3(ASH1L):c.8299C>A (p.Pro2767Thr)	ASH1L (P2772T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1192453	NM_018489.3(ASH1L):c.8293+58A>G	ASH1L	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 52 +1 more	GBenign
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 3789371	NM_018489.3(ASH1L):c.8183C>G (p.Ser2728Cys)	ASH1L (S2728C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3789397	NM_018489.3(ASH1L):c.8176T>G (p.Ser2726Ala)	ASH1L (S2731A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039163	NM_018489.3(ASH1L):c.8164G>C (p.Glu2722Gln)	ASH1L (E2722Q +1 more)	Single nucleotide variant (missense variant)	ASH1L-related disorder	GUncertain significance
Select item 3048477	NM_018489.3(ASH1L):c.8160C>G (p.Pro2720=)	ASH1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3384458	NM_018489.3(ASH1L):c.8158C>G (p.Pro2720Ala)	ASH1L (P2720A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 634619	NM_018489.3(ASH1L):c.8156G>A (p.Arg2719His)	ASH1L (R2719H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 521626	NM_018489.3(ASH1L):c.8092C>T (p.Arg2698Cys)	ASH1L (R2698C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3436030	NM_018489.3(ASH1L):c.8074G>C (p.Asp2692His)	ASH1L (D2692H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577976	NM_018489.3(ASH1L):c.8071C>T (p.Arg2691Ter)	ASH1L (R2691* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3435961	NM_018489.3(ASH1L):c.8020C>T (p.Pro2674Ser)	ASH1L (P2679S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3380901	NM_018489.3(ASH1L):c.7982G>C (p.Gly2661Ala)	ASH1L (G2661A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 3130334	NM_018489.3(ASH1L):c.7982G>A (p.Gly2661Asp)	ASH1L (G2666D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975491	NM_018489.3(ASH1L):c.7976G>A (p.Arg2659His)	ASH1L (R2659H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1709239	NM_018489.3(ASH1L):c.7957C>T (p.Arg2653Ter)	ASH1L (R2653* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 52	GLikely pathogenic
Select item 2439238	NM_018489.3(ASH1L):c.7934G>A (p.Cys2645Tyr)	ASH1L (C2645Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 1690522	NM_018489.3(ASH1L):c.7919A>T (p.Tyr2640Phe)	ASH1L (Y2640F +1 more)	Single nucleotide variant (missense variant)	See cases	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 3595405	NM_018489.3(ASH1L):c.7900A>G (p.Met2634Val)	ASH1L (M2639V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 2639406	NM_018489.3(ASH1L):c.7890+279C>T	ASH1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1334990	NM_018489.3(ASH1L):c.7873C>A (p.Pro2625Thr)	ASH1L, MIR555 (P2625T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3130332	NM_018489.3(ASH1L):c.7831G>T (p.Val2611Leu)	ASH1L, MIR555 (V2611L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2502826	NM_018489.3(ASH1L):c.7804G>T (p.Val2602Leu)	ASH1L (V2602L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GLikely pathogenic
Select item 3047655	NM_018489.3(ASH1L):c.7804-6C>A	ASH1L	Single nucleotide variant (intron variant)	ASH1L-related disorder	GLikely benign
Select item 3789448	NM_018489.3(ASH1L):c.7787A>T (p.Gln2596Leu)	ASH1L (Q2596L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 446515	NM_018489.3(ASH1L):c.7764_7768dup (p.Asp2590fs)	ASH1L (D2590fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 52	GPathogenic
Select item 1033492	NM_018489.3(ASH1L):c.7763A>G (p.Tyr2588Cys)	ASH1L (Y2593C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 3436048	NM_018489.3(ASH1L):c.7732G>A (p.Asp2578Asn)	ASH1L (D2583N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2584985	NM_018489.3(ASH1L):c.7721A>C (p.His2574Pro)	ASH1L (H2574P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52	GUncertain significance
Select item 3058196	NM_018489.3(ASH1L):c.7695C>G (p.Thr2565=)	ASH1L	Single nucleotide variant (synonymous variant)	ASH1L-related disorder	GBenign
Select item 3239298	NM_018489.3(ASH1L):c.7685G>T (p.Ser2562Ile)	ASH1L (S2562I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3789406	NM_018489.3(ASH1L):c.7684A>G (p.Ser2562Gly)	ASH1L (S2567G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498426	NM_018489.3(ASH1L):c.7633G>A (p.Ala2545Thr)	ASH1L (A2545T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429978	NM_018489.3(ASH1L):c.7622C>T (p.Ala2541Val)	ASH1L (A2541V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 3435981	NM_018489.3(ASH1L):c.7619A>G (p.Asn2540Ser)	ASH1L (N2540S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1334991	NM_018489.3(ASH1L):c.7598G>A (p.Arg2533His)	ASH1L (R2533H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52 +1 more	GUncertain significance
Select item 2552878	NM_018489.3(ASH1L):c.7597C>T (p.Arg2533Cys)	ASH1L (R2538C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1694527	NM_018489.3(ASH1L):c.7568G>A (p.Arg2523His)	ASH1L (R2523H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3778519	NM_018489.3(ASH1L):c.7564G>A (p.Gly2522Arg)	ASH1L (G2522R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3435965	NM_018489.3(ASH1L):c.7562A>G (p.Tyr2521Cys)	ASH1L (Y2526C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 8