14334[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 1986003	NM_020831.6(MRTFA):c.3093G>A (p.Leu1031=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778304	NM_020831.6(MRTFA):c.3078C>A (p.His1026Gln)	MRTFA (H961Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682908	NM_020831.6(MRTFA):c.3078C>T (p.His1026=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682909	NM_020831.6(MRTFA):c.3076C>T (p.His1026Tyr)	MRTFA (H1026Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682910	NM_020831.6(MRTFA):c.3072G>C (p.Gln1024His)	MRTFA (Q1024H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2699742	NM_020831.6(MRTFA):c.3065A>G (p.Asp1022Gly)	MRTFA (D957G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970591	NM_020831.6(MRTFA):c.3063T>C (p.His1021=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720853	NM_020831.6(MRTFA):c.3054C>T (p.Leu1018=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1682911	NM_020831.6(MRTFA):c.3051C>T (p.Phe1017=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843972	NM_020831.6(MRTFA):c.3044_3045del (p.Thr1015fs)	MRTFA (T915fs +3 more)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2897244	NM_020831.6(MRTFA):c.3039C>T (p.Phe1013=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2023496	NM_020831.6(MRTFA):c.3039C>G (p.Phe1013Leu)	MRTFA (F1013L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682912	NM_020831.6(MRTFA):c.3034C>G (p.Leu1012Val)	MRTFA (L1012V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068718	NM_020831.6(MRTFA):c.3028C>T (p.Pro1010Ser)	MRTFA (P1010S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729224	NM_020831.6(MRTFA):c.3027C>T (p.Ala1009=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2490580	NM_020831.6(MRTFA):c.3025G>A (p.Ala1009Thr)	MRTFA (A909T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1951421	NM_020831.6(MRTFA):c.3013dup (p.Leu1005fs)	MRTFA (L1005fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1682913	NM_020831.6(MRTFA):c.3012C>T (p.Pro1004=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1117977	NM_020831.6(MRTFA):c.3012C>G (p.Pro1004=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824308	NM_020831.6(MRTFA):c.2998C>A (p.Leu1000Met)	MRTFA (L1000M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2696346	NM_020831.6(MRTFA):c.2995G>C (p.Val999Leu)	MRTFA (V999L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682914	NM_020831.6(MRTFA):c.2995G>A (p.Val999Met)	MRTFA (V899M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1086032	NM_020831.6(MRTFA):c.2994C>T (p.Pro998=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682915	NM_020831.6(MRTFA):c.2982G>A (p.Ser994=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2817974	NM_020831.6(MRTFA):c.2971C>A (p.Leu991Met)	MRTFA (L941M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970699	NM_020831.6(MRTFA):c.2963T>C (p.Met988Thr)	MRTFA (M988T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2723471	NM_020831.6(MRTFA):c.2955G>A (p.Leu985=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2036652	NM_020831.6(MRTFA):c.2954T>A (p.Leu985Gln)	MRTFA (L935Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682916	NM_020831.6(MRTFA):c.2936A>C (p.Asp979Ala)	MRTFA (D929A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682917	NM_020831.6(MRTFA):c.2928G>C (p.Met976Ile)	MRTFA (M876I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1675101	NM_020831.6(MRTFA):c.2928G>T (p.Met976Ile)	MRTFA (M876I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1682918	NM_020831.6(MRTFA):c.2927T>C (p.Met976Thr)	MRTFA (M876T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2149174	NM_020831.6(MRTFA):c.2925C>T (p.Thr975=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682919	NM_020831.6(MRTFA):c.2913G>C (p.Glu971Asp)	MRTFA (E871D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2854409	NM_020831.6(MRTFA):c.2909C>G (p.Pro970Arg)	MRTFA (P970R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2814019	NM_020831.6(MRTFA):c.2907T>C (p.Val969=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2115633	NM_020831.6(MRTFA):c.2898G>C (p.Leu966Phe)	MRTFA (L966F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682920	NM_020831.6(MRTFA):c.2892G>A (p.Ser964=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1901616	NM_020831.6(MRTFA):c.2891C>T (p.Ser964Leu)	MRTFA (S864L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868421	NM_020831.6(MRTFA):c.2889C>T (p.Thr963=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1139999	NM_020831.6(MRTFA):c.2874G>A (p.Pro958=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2197614	NM_020831.6(MRTFA):c.2873C>T (p.Pro958Leu)	MRTFA (P893L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2025945	NM_020831.6(MRTFA):c.2873C>A (p.Pro958Gln)	MRTFA (P858Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757914	NM_020831.6(MRTFA):c.2869C>A (p.Pro957Thr)	MRTFA (P957T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2016665	NM_020831.6(MRTFA):c.2860C>T (p.Leu954=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2195181	NM_020831.6(MRTFA):c.2852C>T (p.Thr951Ile)	MRTFA (T886I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1007834	NM_020831.6(MRTFA):c.2836C>G (p.Gln946Glu)	MRTFA (Q846E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964954	NM_020831.6(MRTFA):c.2824G>A (p.Asp942Asn)	MRTFA (D942N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682921	NM_020831.6(MRTFA):c.2823C>T (p.Asp941=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682922	NM_020831.6(MRTFA):c.2819T>C (p.Ile940Thr)	MRTFA (I840T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418009	NM_020831.6(MRTFA):c.2803G>C (p.Glu935Gln)	MRTFA (E835Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682923	NM_020831.6(MRTFA):c.2796C>T (p.Asp932=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903761	NM_020831.6(MRTFA):c.2784C>G (p.Thr928=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2139156	NM_020831.6(MRTFA):c.2784C>T (p.Thr928=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2063394	NM_020831.6(MRTFA):c.2783C>T (p.Thr928Ile)	MRTFA (T863I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2803957	NM_020831.6(MRTFA):c.2769G>T (p.Gly923=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682924	NM_020831.6(MRTFA):c.2767G>T (p.Gly923Trp)	MRTFA (G823W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682925	NM_020831.6(MRTFA):c.2766G>A (p.Thr922=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1898763	NM_020831.6(MRTFA):c.2765C>T (p.Thr922Met)	MRTFA (T822M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2419097	NM_020831.6(MRTFA):c.2759G>A (p.Ser920Asn)	MRTFA (S820N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723814	NM_020831.6(MRTFA):c.2746_2757dup (p.Glu919_Ser920insAspPheLeuGlu)	MRTFA	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2022128	NM_020831.6(MRTFA):c.2751C>T (p.Phe917=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682926	NM_020831.6(MRTFA):c.2747A>G (p.Asp916Gly)	MRTFA (D816G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682927	NM_020831.6(MRTFA):c.2739C>T (p.Arg913=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1967852	NM_020831.6(MRTFA):c.2738G>A (p.Arg913His)	MRTFA (R813H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2081088	NM_020831.6(MRTFA):c.2737C>G (p.Arg913Gly)	MRTFA (R813G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682928	NM_020831.6(MRTFA):c.2737C>T (p.Arg913Cys)	MRTFA (R813C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1911113	NM_020831.6(MRTFA):c.2735_2736delinsTT (p.Gly912Val)	MRTFA (G847V +3 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2058587	NM_020831.6(MRTFA):c.2729T>C (p.Leu910Pro)	MRTFA (L910P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2986414	NM_020831.6(MRTFA):c.2724C>T (p.Pro908=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1932200	NM_020831.6(MRTFA):c.2718C>T (p.Gly906=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869285	NM_020831.6(MRTFA):c.2717G>C (p.Gly906Ala)	MRTFA (G906A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851863	NM_020831.6(MRTFA):c.2716G>A (p.Gly906Ser)	MRTFA (G806S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2030248	NM_020831.6(MRTFA):c.2693_2711del (p.Pro898fs)	MRTFA (P833fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2074533	NM_020831.6(MRTFA):c.2706A>T (p.Pro902=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2835617	NM_020831.6(MRTFA):c.2695C>A (p.Gln899Lys)	MRTFA (Q899K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682929	NM_020831.6(MRTFA):c.2692C>T (p.Pro898Ser)	MRTFA (P798S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 773374	NM_020831.6(MRTFA):c.2691C>T (p.Leu897=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2995232	NM_020831.6(MRTFA):c.2689C>T (p.Leu897Phe)	MRTFA (L797F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185128	NM_020831.6(MRTFA):c.2684C>T (p.Ala895Val)	MRTFA (A845V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1682930	NM_020831.6(MRTFA):c.2671C>T (p.Pro891Ser)	MRTFA (A894V +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1682931	NM_020831.6(MRTFA):c.2668C>A (p.Gln890Lys)	MRTFA (Q790K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927738	NM_020831.6(MRTFA):c.2659C>T (p.Leu887=)	MRTFA (P890L)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682932	NM_020831.6(MRTFA):c.2658C>A (p.Pro886=)	MRTFA (P890T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682933	NM_020831.6(MRTFA):c.2657C>T (p.Pro886Leu)	MRTFA (P786L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682934	NM_020831.6(MRTFA):c.2654C>G (p.Ser885Cys)	MRTFA (S785C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2827442	NM_020831.6(MRTFA):c.2649T>C (p.Cys883=)	MRTFA (W887R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1952036	NM_020831.6(MRTFA):c.2645T>C (p.Val882Ala)	MRTFA (V817A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1968977	NM_020831.6(MRTFA):c.2643A>C (p.Thr881=)	MRTFA (S885R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1913956	NM_020831.6(MRTFA):c.2637G>A (p.Pro879=)	MRTFA (E883K)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682935	NM_020831.6(MRTFA):c.2636C>T (p.Pro879Leu)	MRTFA (P779L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2965333	NM_020831.6(MRTFA):c.2633C>T (p.Ser878Phe)	MRTFA (S828F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116347	NM_020831.6(MRTFA):c.2629C>T (p.Pro877Ser)	MRTFA (P812S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918182	NM_020831.6(MRTFA):c.2623_2625del (p.Glu875del)	MRTFA (G878del +4 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2810244	NM_020831.6(MRTFA):c.2614C>T (p.Pro872Ser)	MRTFA (A875V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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