MAD2L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 2094927	NM_006341.4(MAD2L2):c.634T>C (p.Ter212Arg)	MAD2L2	Single nucleotide variant (stop lost)	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 2180851	NM_006341.4(MAD2L2):c.618C>T (p.Arg206=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2192959	NM_006341.4(MAD2L2):c.609G>A (p.Val203=)	MAD2L2	Single nucleotide variant (synonymous 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 2128836	NM_006341.4(MAD2L2):c.607G>T (p.Val203Leu)	MAD2L2 (V203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731771	NM_006341.4(MAD2L2):c.606C>T (p.Tyr202=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2187575	NM_006341.4(MAD2L2):c.595-5G>A	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174884	NM_006341.4(MAD2L2):c.595-6C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973280	NM_006341.4(MAD2L2):c.594+20G>A	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974996	NM_006341.4(MAD2L2):c.594+10G>A	MAD2L2	Single nucleotide variant (intron 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 726312	NM_006341.4(MAD2L2):c.582G>A (p.Ser194=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785930	NM_006341.4(MAD2L2):c.579G>A (p.Thr193=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2799381	NM_006341.4(MAD2L2):c.561dup (p.Pro188fs)	MAD2L2 (P188fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 2032506	NM_006341.4(MAD2L2):c.549C>A (p.Asp183Glu)	MAD2L2 (D183E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993919	NM_006341.4(MAD2L2):c.549C>G (p.Asp183Glu)	MAD2L2 (D183E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033587	NM_006341.4(MAD2L2):c.537C>T (p.Val179=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111096	NM_006341.4(MAD2L2):c.519G>A (p.Leu173=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715291	NM_006341.4(MAD2L2):c.507C>T (p.Phe169=)	MAD2L2	Single nucleotide variant (synonymous 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 2874265	NM_006341.4(MAD2L2):c.502-10_502-7dup	MAD2L2	Duplication (intron variant)	not provided	GLikely benign
Select item 2771392	NM_006341.4(MAD2L2):c.502-13G>A	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921850	NM_006341.4(MAD2L2):c.502-14T>G	MAD2L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971507	NM_006341.4(MAD2L2):c.502-15T>G	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809849	NM_006341.4(MAD2L2):c.501+10G>T	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 2863325	NM_006341.4(MAD2L2):c.500del (p.Lys167fs)	MAD2L2 (K167fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 2089951	NM_006341.4(MAD2L2):c.472C>T (p.Arg158Cys)	MAD2L2 (R158C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1979755	NM_006341.4(MAD2L2):c.465C>T (p.Ala155=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2705040	NM_006341.4(MAD2L2):c.462A>T (p.Glu154Asp)	MAD2L2 (E154D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2787658	NM_006341.4(MAD2L2):c.455C>A (p.Thr152Lys)	MAD2L2 (T152K)	Single nucleotide variant (missense 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 1977722	NM_006341.4(MAD2L2):c.429C>T (p.Gly143=)	MAD2L2	Single nucleotide variant (synonymous 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 1994669	NM_006341.4(MAD2L2):c.428-8C>T	MAD2L2	Single nucleotide variant (intron 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 2084478	NM_006341.4(MAD2L2):c.427+19C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779335	NM_006341.4(MAD2L2):c.427+17C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867449	NM_006341.4(MAD2L2):c.427+7C>T	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975864	NM_006341.4(MAD2L2):c.427+2T>A	MAD2L2	Single nucleotide variant (splice donor variant)	not provided	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 767652	NM_006341.4(MAD2L2):c.399C>T (p.Cys133=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2900744	NM_006341.4(MAD2L2):c.393C>T (p.Ser131=)	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 2897381	NM_006341.4(MAD2L2):c.354T>A (p.His118Gln)	MAD2L2 (H118Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146960	NM_006341.4(MAD2L2):c.354T>C (p.His118=)	MAD2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025375	NM_006341.4(MAD2L2):c.343C>T (p.Leu115=)	MAD2L2	Single nucleotide variant (synonymous 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 2104691	NM_006341.4(MAD2L2):c.333-8_333-5del	MAD2L2	Deletion (intron variant)	not provided	GLikely benign
Select item 2088696	NM_006341.4(MAD2L2):c.333-13C>G	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972611	NM_006341.4(MAD2L2):c.333-15T>C	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868765	NM_006341.4(MAD2L2):c.332+20C>T	MAD2L2	Single nucleotide variant (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 2879866	NM_006341.4(MAD2L2):c.332+13del	MAD2L2	Deletion (intron 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 2065616	NM_006341.4(MAD2L2):c.329T>C (p.Ile110Thr)	MAD2L2 (I110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001709	NM_006341.4(MAD2L2):c.318A>G (p.Pro106=)	MAD2L2	Single nucleotide variant (synonymous 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 738072	NM_006341.4(MAD2L2):c.279C>T (p.Arg93=)	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 743486	NM_006341.4(MAD2L2):c.278G>A (p.Arg93His)	MAD2L2 (R93H)	Single nucleotide variant (missense 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 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 2128959	NM_006341.4(MAD2L2):c.272A>G (p.Glu91Gly)	MAD2L2 (E91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372196	NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)	MAD2L2 (V85E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group V +1 more	GPathogenic
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 2101329	NM_006341.4(MAD2L2):c.232-6_232-5del	MAD2L2	Deletion (intron variant)	not provided	GLikely benign
Select item 722046	NM_006341.4(MAD2L2):c.232-5T>C	MAD2L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2116447	NM_006341.4(MAD2L2):c.232-12CT[2]	MAD2L2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1978084	NM_006341.4(MAD2L2):c.232-11T>C	MAD2L2	Single nucleotide variant (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 1971650	NM_006341.4(MAD2L2):c.232-17G>A	MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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