ClinVar for Gene (Select 10459) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345868	NM_006341.4(MAD2L2):c.-8C>G	MAD2L2	Single nucleotide variant (5 prime UTR variant)	MAD2L2-related disorder	GUncertain significance
Select item 3292529	NM_006341.4(MAD2L2):c.425C>G (p.Pro142Arg)	MAD2L2 (P142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3247909	NC_000001.10:g.(?_10710729)_(12030893_?)del	AGTRAP, FBXO6 +21 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3015730	NM_006341.4(MAD2L2):c.159G>A (p.Gln53=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2910816	NM_006341.4(MAD2L2):c.450G>T (p.Val150=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903736	NM_006341.4(MAD2L2):c.594+9C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900744	NM_006341.4(MAD2L2):c.393C>T (p.Ser131=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897381	NM_006341.4(MAD2L2):c.354T>A (p.His118Gln)	MAD2L2 (H118Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888080	NM_006341.4(MAD2L2):c.-3_1dup (p.Met1fs)	MAD2L2 (M1fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2879866	NM_006341.4(MAD2L2):c.332+13del	MAD2L2	Deletion (intron variant)	not provided	GLikely benign
Select item 2877917	NM_006341.4(MAD2L2):c.232-16del	MAD2L2	Deletion (intron variant)	not provided	GBenign
Select item 2874790	NM_006341.4(MAD2L2):c.274C>T (p.His92Tyr)	MAD2L2 (H92Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2874711	NM_006341.4(MAD2L2):c.160-19C>G	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874265	NM_006341.4(MAD2L2):c.502-10_502-7dup	MAD2L2	Duplication (intron variant)	not provided	GLikely benign
Select item 2873756	NM_006341.4(MAD2L2):c.332+17_332+18del	MAD2L2	Deletion (intron variant)	not provided	GLikely benign
Select item 2870086	NM_006341.4(MAD2L2):c.41-6dup	LOC129929411, MAD2L2	Duplication (intron variant)	not provided	GBenign
Select item 2869680	NM_006341.4(MAD2L2):c.48C>T (p.Ala16=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869063	NM_006341.4(MAD2L2):c.553C>T (p.Arg185Trp)	MAD2L2 (R185W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868765	NM_006341.4(MAD2L2):c.332+20C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868663	NM_006341.4(MAD2L2):c.455C>T (p.Thr152Met)	MAD2L2 (T152M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867449	NM_006341.4(MAD2L2):c.427+7C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863325	NM_006341.4(MAD2L2):c.500del (p.Lys167fs)	MAD2L2 (K167fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2862690	NM_006341.4(MAD2L2):c.145A>G (p.Asn49Asp)	MAD2L2 (N49D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861328	NM_006341.4(MAD2L2):c.237T>A (p.Asp79Glu)	MAD2L2 (D79E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843943	NM_006341.4(MAD2L2):c.213C>T (p.Val71=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837153	NM_006341.4(MAD2L2):c.278G>T (p.Arg93Leu)	MAD2L2 (R93L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818805	NM_006341.4(MAD2L2):c.160-7T>C	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814735	NM_006341.4(MAD2L2):c.40+19C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811484	NM_006341.4(MAD2L2):c.428-2A>G	MAD2L2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2809849	NM_006341.4(MAD2L2):c.501+10G>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808973	NM_006341.4(MAD2L2):c.294C>T (p.Phe98=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799381	NM_006341.4(MAD2L2):c.561dup (p.Pro188fs)	MAD2L2 (P188fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2794131	NM_006341.4(MAD2L2):c.159+19C>A	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790636	NM_006341.4(MAD2L2):c.41-12G>T	LOC129929411, MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787900	NM_006341.4(MAD2L2):c.466G>A (p.Ala156Thr)	MAD2L2 (A156T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787658	NM_006341.4(MAD2L2):c.455C>A (p.Thr152Lys)	MAD2L2 (T152K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779335	NM_006341.4(MAD2L2):c.427+17C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779120	NM_006341.4(MAD2L2):c.502-4C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778087	NM_006341.4(MAD2L2):c.41-12G>A	LOC129929411, MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777940	NM_006341.4(MAD2L2):c.57C>T (p.Leu19=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777872	NM_006341.4(MAD2L2):c.159+15A>G	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772812	NM_006341.4(MAD2L2):c.501+4A>C	MAD2L2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2771392	NM_006341.4(MAD2L2):c.502-13G>A	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754218	NM_006341.4(MAD2L2):c.13A>G (p.Thr5Ala)	MAD2L2 (T5A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743844	NM_006341.4(MAD2L2):c.216G>A (p.Lys72=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734215	NM_006341.4(MAD2L2):c.332+11C>G	MAD2L2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2724058	NM_006341.4(MAD2L2):c.115G>T (p.Val39Leu)	MAD2L2 (V39L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722098	NM_006341.4(MAD2L2):c.629G>T (p.Gly210Val)	MAD2L2 (G210V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715291	NM_006341.4(MAD2L2):c.507C>T (p.Phe169=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707052	NM_006341.4(MAD2L2):c.428-9C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705040	NM_006341.4(MAD2L2):c.462A>T (p.Glu154Asp)	MAD2L2 (E154D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703582	NM_006341.4(MAD2L2):c.108C>T (p.Val36=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638237	NM_001127325.2(MAD2L2):c.-13+3286G>A	DRAXIN, MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2634658	NM_006341.4(MAD2L2):c.338A>C (p.Asp113Ala)	MAD2L2 (D113A)	Single nucleotide variant (missense variant)	MAD2L2-related disorder	GUncertain significance
Select item 2628926	NM_006341.4(MAD2L2):c.200C>T (p.Thr67Met)	MAD2L2 (T67M)	Single nucleotide variant (missense variant)	MAD2L2-related disorder	GUncertain significance
Select item 2621226	NM_006341.4(MAD2L2):c.133C>T (p.Arg45Cys)	MAD2L2 (R45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602678	NM_006341.4(MAD2L2):c.617G>A (p.Arg206His)	MAD2L2 (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425520	NC_000001.10:g.(?_10698999)_(11907741_?)dup	AGTRAP, ANGPTL7 +18 more	Duplication	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2425245	NC_000001.10:g.(?_10753911)_(11854615_?)dup	AGTRAP, ANGPTL7 +16 more	Duplication	not provided	GUncertain significance
Select item 2423759	NC_000001.10:g.(?_11734832)_(11740658_?)dup	MAD2L2	Duplication	not provided	GUncertain significance
Select item 2290346	NM_006341.4(MAD2L2):c.464C>T (p.Ala155Val)	MAD2L2 (A155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2192959	NM_006341.4(MAD2L2):c.609G>A (p.Val203=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189964	NM_006341.4(MAD2L2):c.41-6C>T	LOC129929411, MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2189057	NM_006341.4(MAD2L2):c.129G>A (p.Gln43=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187575	NM_006341.4(MAD2L2):c.595-5G>A	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185226	NM_006341.4(MAD2L2):c.231+7G>A	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184419	NM_006341.4(MAD2L2):c.607G>A (p.Val203Met)	MAD2L2 (V203M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180851	NM_006341.4(MAD2L2):c.618C>T (p.Arg206=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180557	NM_006341.4(MAD2L2):c.368_369dup (p.Arg124fs)	MAD2L2 (R124fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2174884	NM_006341.4(MAD2L2):c.595-6C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169910	NM_006341.4(MAD2L2):c.12C>A (p.Leu4=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164123	NM_006341.4(MAD2L2):c.41-8C>A	LOC129929411, MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2161132	NM_006341.4(MAD2L2):c.174G>A (p.Pro58=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146960	NM_006341.4(MAD2L2):c.354T>C (p.His118=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132935	NM_006341.4(MAD2L2):c.12C>T (p.Leu4=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128959	NM_006341.4(MAD2L2):c.272A>G (p.Glu91Gly)	MAD2L2 (E91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128836	NM_006341.4(MAD2L2):c.607G>T (p.Val203Leu)	MAD2L2 (V203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116447	NM_006341.4(MAD2L2):c.232-12CT[2]	MAD2L2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2113208	NM_006341.4(MAD2L2):c.479T>C (p.Met160Thr)	MAD2L2 (M160T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111096	NM_006341.4(MAD2L2):c.519G>A (p.Leu173=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104691	NM_006341.4(MAD2L2):c.333-8_333-5del	MAD2L2	Deletion (intron variant)	not provided	GLikely benign
Select item 2101329	NM_006341.4(MAD2L2):c.232-6_232-5del	MAD2L2	Deletion (intron variant)	not provided	GLikely benign
Select item 2094927	NM_006341.4(MAD2L2):c.634T>C (p.Ter212Arg)	MAD2L2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2089951	NM_006341.4(MAD2L2):c.472C>T (p.Arg158Cys)	MAD2L2 (R158C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088696	NM_006341.4(MAD2L2):c.333-13C>G	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084478	NM_006341.4(MAD2L2):c.427+19C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084326	NM_006341.4(MAD2L2):c.138G>A (p.Lys46=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2070063	NM_006341.4(MAD2L2):c.114C>T (p.Pro38=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065616	NM_006341.4(MAD2L2):c.329T>C (p.Ile110Thr)	MAD2L2 (I110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065016	NM_006341.4(MAD2L2):c.41-7C>G	LOC129929411, MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055177	NM_006341.4(MAD2L2):c.159+8A>G	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2042580	NM_006341.4(MAD2L2):c.277C>T (p.Arg93Cys)	MAD2L2 (R93C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2034480	NM_006341.4(MAD2L2):c.160-19C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033587	NM_006341.4(MAD2L2):c.537C>T (p.Val179=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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