64780[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2078266	NM_022765.4(MICAL1):c.3192G>C (p.Gly1064=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722147	NM_022765.4(MICAL1):c.3189_3190del (p.Ala1065fs)	MICAL1 (A979fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1899984	NM_022765.4(MICAL1):c.3183G>A (p.Leu1061=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939279	NM_022765.4(MICAL1):c.3180C>G (p.Ala1060=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071123	NM_022765.4(MICAL1):c.3172G>A (p.Glu1058Lys)	MICAL1 (E1077K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2401538	NM_022765.4(MICAL1):c.3171C>G (p.Ser1057Arg)	MICAL1 (S1057R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1941133	NM_022765.4(MICAL1):c.3171C>T (p.Ser1057=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957533	NM_022765.4(MICAL1):c.3163A>G (p.Arg1055Gly)	MICAL1 (R1055G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074718	NM_022765.4(MICAL1):c.3161G>A (p.Arg1054His)	MICAL1 (R1054H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177714	NM_022765.4(MICAL1):c.3160C>T (p.Arg1054Cys)	MICAL1 (R1054C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480282	NM_022765.4(MICAL1):c.3154GAG[1] (p.Glu1053del)	MICAL1 (E1072del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1503366	NM_022765.4(MICAL1):c.3151C>T (p.Gln1051Ter)	MICAL1 (Q1051* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2703647	NM_022765.4(MICAL1):c.3147C>A (p.Arg1049=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969533	NM_022765.4(MICAL1):c.3146G>A (p.Arg1049His)	MICAL1 (R963H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782250	NM_022765.4(MICAL1):c.3145C>T (p.Arg1049Cys)	MICAL1 (R1049C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240939	NM_022765.4(MICAL1):c.3140T>A (p.Leu1047His)	MICAL1 (L1066H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2130429	NM_022765.4(MICAL1):c.3125A>G (p.Asn1042Ser)	MICAL1 (N1061S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670124	NM_022765.4(MICAL1):c.3120G>T (p.Leu1040Phe)	MICAL1 (L1040F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 778889	NM_022765.4(MICAL1):c.3114G>A (p.Val1038=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2747480	NM_022765.4(MICAL1):c.3111G>A (p.Leu1037=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941968	NM_022765.4(MICAL1):c.3110T>C (p.Leu1037Pro)	MICAL1 (L1037P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876714	NM_022765.4(MICAL1):c.3108G>A (p.Lys1036=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941135	NM_022765.4(MICAL1):c.3102G>A (p.Leu1034=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1631150	NM_022765.4(MICAL1):c.3100C>T (p.Leu1034=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947523	NM_022765.4(MICAL1):c.3080G>A (p.Arg1027Gln)	MICAL1 (R941Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981972	NM_022765.4(MICAL1):c.3079C>T (p.Arg1027Trp)	MICAL1 (R941W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909537	NM_022765.4(MICAL1):c.3079C>G (p.Arg1027Gly)	MICAL1 (R1046G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994707	NM_022765.4(MICAL1):c.3076G>C (p.Asp1026His)	MICAL1 (D1026H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111735	NM_022765.4(MICAL1):c.3071CTG[1] (p.Ala1025del)	MICAL1 (A1044del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2095012	NM_022765.4(MICAL1):c.3066G>A (p.Lys1022=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463839	NM_022765.4(MICAL1):c.3064A>C (p.Lys1022Gln)	MICAL1 (K1041Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969798	NM_022765.4(MICAL1):c.3056-9T>G	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101890	NM_022765.4(MICAL1):c.3056-10C>T	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045564	NM_022765.4(MICAL1):c.3056-13C>A	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946632	NM_022765.4(MICAL1):c.3056-17T>C	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122773	NM_022765.4(MICAL1):c.3055+15G>A	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111553	NM_022765.4(MICAL1):c.3055+9A>C	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900023	NM_022765.4(MICAL1):c.3055+6T>C	MICAL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2180305	NM_022765.4(MICAL1):c.3050G>A (p.Arg1017Gln)	MICAL1 (R1017Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2165538	NM_022765.4(MICAL1):c.3049C>T (p.Arg1017Trp)	MICAL1 (R1017W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1412266	NM_022765.4(MICAL1):c.3045G>A (p.Met1015Ile)	MICAL1 (M1015I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2974138	NM_022765.4(MICAL1):c.3036A>C (p.Arg1012=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830550	NM_022765.4(MICAL1):c.3035G>C (p.Arg1012Pro)	MICAL1 (R1031P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983813	NM_022765.4(MICAL1):c.3035G>A (p.Arg1012Gln)	MICAL1 (R1031Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2146955	NM_022765.4(MICAL1):c.3034C>T (p.Arg1012Ter)	MICAL1 (R1012* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2879780	NM_022765.4(MICAL1):c.3028G>A (p.Glu1010Lys)	MICAL1 (E1010K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871857	NM_022765.4(MICAL1):c.3024C>T (p.Asp1008=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708674	NM_022765.4(MICAL1):c.3022G>T (p.Asp1008Tyr)	MICAL1 (D1027Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292557	NM_022765.4(MICAL1):c.3019C>G (p.Leu1007Val)	MICAL1 (L1007V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3011669	NM_022765.4(MICAL1):c.3011A>C (p.Gln1004Pro)	MICAL1 (Q1004P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899136	NM_022765.4(MICAL1):c.3001G>A (p.Glu1001Lys)	MICAL1 (E1020K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512428	NM_022765.4(MICAL1):c.2998C>A (p.Leu1000Met)	MICAL1 (L1000M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855283	NM_022765.4(MICAL1):c.2993del (p.Glu997_Leu998insTer)	MICAL1	Deletion (nonsense)	not provided	GUncertain significance
Select item 2713482	NM_022765.4(MICAL1):c.2989G>A (p.Glu997Lys)	MICAL1 (E997K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957667	NM_022765.4(MICAL1):c.2982-2A>G	MICAL1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1913057	NM_022765.4(MICAL1):c.2982-8C>G	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712706	NM_022765.4(MICAL1):c.2982-8C>T	MICAL1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2848355	NM_022765.4(MICAL1):c.2982-15C>A	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528042	NM_022765.4(MICAL1):c.2982-16T>C	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636967	NM_022765.4(MICAL1):c.2981+13G>A	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542770	NM_022765.4(MICAL1):c.2981+6G>C	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985115	NM_022765.4(MICAL1):c.2981+1G>A	MICAL1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2973083	NM_022765.4(MICAL1):c.2981+1G>T	MICAL1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1490211	NM_022765.4(MICAL1):c.2981C>T (p.Thr994Met)	MICAL1 (T1013M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965400	NM_022765.4(MICAL1):c.2978T>C (p.Ile993Thr)	MICAL1 (I907T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135655	NM_022765.4(MICAL1):c.2975T>C (p.Met992Thr)	MICAL1 (M906T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018520	NM_022765.4(MICAL1):c.2974A>T (p.Met992Leu)	MICAL1 (M906L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930053	NM_022765.4(MICAL1):c.2973C>T (p.Leu991=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698268	NM_022765.4(MICAL1):c.2971C>G (p.Leu991Val)	MICAL1 (L1010V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989225	NM_022765.4(MICAL1):c.2968G>A (p.Glu990Lys)	MICAL1 (E904K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180237	NM_022765.4(MICAL1):c.2967C>T (p.Ala989=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934352	NM_022765.4(MICAL1):c.2956G>A (p.Ala986Thr)	MICAL1 (A900T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000327	NM_022765.4(MICAL1):c.2953G>A (p.Val985Met)	MICAL1 (V899M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912179	NM_022765.4(MICAL1):c.2945_2946insAG (p.Asn982fs)	MICAL1 (N1001fs +2 more)	Insertion (frameshift variant)	not provided	GLikely benign
Select item 1402455	NM_022765.4(MICAL1):c.2944A>C (p.Asn982His)	MICAL1 (N896H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2276175	NM_022765.4(MICAL1):c.2939A>G (p.Lys980Arg)	MICAL1 (K894R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2161593	NM_022765.4(MICAL1):c.2938A>C (p.Lys980Gln)	MICAL1 (K999Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2987423	NM_022765.4(MICAL1):c.2932G>C (p.Val978Leu)	MICAL1 (V978L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057219	NM_022765.4(MICAL1):c.2932G>A (p.Val978Ile)	MICAL1 (V892I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966409	NM_022765.4(MICAL1):c.2929C>T (p.Leu977Phe)	MICAL1 (L891F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815577	NM_022765.4(MICAL1):c.2911G>T (p.Val971Leu)	MICAL1 (V885L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030661	NM_022765.4(MICAL1):c.2910G>A (p.Trp970Ter)	MICAL1 (W884* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2844827	NM_022765.4(MICAL1):c.2909G>A (p.Trp970Ter)	MICAL1 (W970* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1969815	NM_022765.4(MICAL1):c.2901G>T (p.Lys967Asn)	MICAL1 (K986N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624055	NM_022765.4(MICAL1):c.2898A>G (p.Gln966=)	MICAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034463	NM_022765.4(MICAL1):c.2893C>A (p.Gln965Lys)	MICAL1 (Q965K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894500	NM_022765.4(MICAL1):c.2882G>T (p.Ser961Ile)	MICAL1 (S961I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853941	NM_022765.4(MICAL1):c.2882-5C>G	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097704	NM_022765.4(MICAL1):c.2882-11_2882-8del	MICAL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1932352	NM_022765.4(MICAL1):c.2882-11C>A	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975546	NM_022765.4(MICAL1):c.2882-18C>T	MICAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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