MAMDC2[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	LOC130001865, LOC130001866 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 155686	GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3	ABHD17B, APBA1 +79 more	Copy number gain	See cases	GLikely pathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 161822	NM_153267.5(MAMDC2):c.58G>A (p.Asp20Asn)	MAMDC2 (D20N)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3122341	NM_153267.5(MAMDC2):c.79G>A (p.Ala27Thr)	MAMDC2 (A27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354243	NM_153267.5(MAMDC2):c.118G>T (p.Ala40Ser)	MAMDC2 (A40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610407	NM_153267.5(MAMDC2):c.155A>G (p.Tyr52Cys)	MAMDC2 (Y52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292740	NM_153267.5(MAMDC2):c.172T>A (p.Ser58Thr)	MAMDC2 (S58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122338	NM_153267.5(MAMDC2):c.238T>C (p.Cys80Arg)	MAMDC2 (C80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122339	NM_153267.5(MAMDC2):c.310A>G (p.Met104Val)	MAMDC2 (M104V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3122340	NM_153267.5(MAMDC2):c.324T>G (p.Asp108Glu)	MAMDC2 (D108E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351404	NM_153267.5(MAMDC2):c.346T>C (p.Trp116Arg)	MAMDC2 (W116R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617284	NM_153267.5(MAMDC2):c.449G>C (p.Gly150Ala)	MAMDC2 (G150A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324887	NM_153267.5(MAMDC2):c.493G>A (p.Gly165Ser)	MAMDC2 (G165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292741	NM_153267.5(MAMDC2):c.592C>T (p.Arg198Trp)	MAMDC2 (R198W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557268	NM_153267.5(MAMDC2):c.595A>G (p.Asn199Asp)	MAMDC2 (N199D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404349	NM_153267.5(MAMDC2):c.718A>G (p.Thr240Ala)	MAMDC2 (T240A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122342	NM_153267.5(MAMDC2):c.817G>A (p.Glu273Lys)	MAMDC2 (E273K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468339	NM_153267.5(MAMDC2):c.822A>C (p.Glu274Asp)	MAMDC2 (E274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393647	NM_153267.5(MAMDC2):c.848A>G (p.Asn283Ser)	MAMDC2 (N283S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3292747	NM_153267.5(MAMDC2):c.886C>G (p.Pro296Ala)	MAMDC2 (P296A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275990	NM_153267.5(MAMDC2):c.958A>T (p.Ile320Phe)	MAMDC2 (I320F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275321	NM_153267.5(MAMDC2):c.992C>G (p.Thr331Arg)	MAMDC2 (T331R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251363	NM_153267.5(MAMDC2):c.1010C>T (p.Ala337Val)	MAMDC2 (A337V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122333	NM_153267.5(MAMDC2):c.1075G>C (p.Gly359Arg)	MAMDC2 (G359R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481130	NM_153267.5(MAMDC2):c.1078T>G (p.Trp360Gly)	MAMDC2 (W360G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454183	NM_153267.5(MAMDC2):c.1106T>C (p.Met369Thr)	MAMDC2 (M369T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220160	NM_153267.5(MAMDC2):c.1112G>A (p.Arg371Gln)	MAMDC2 (R371Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292744	NM_153267.5(MAMDC2):c.1130C>G (p.Thr377Arg)	MAMDC2 (T377R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350991	NM_153267.5(MAMDC2):c.1199A>T (p.Tyr400Phe)	MAMDC2 (Y400F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122334	NM_153267.5(MAMDC2):c.1205C>G (p.Pro402Arg)	MAMDC2 (P402R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292745	NM_153267.5(MAMDC2):c.1264T>G (p.Leu422Val)	MAMDC2 (L422V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406189	NM_153267.5(MAMDC2):c.1266A>T (p.Leu422Phe)	MAMDC2 (L422F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526669	NM_153267.5(MAMDC2):c.1322A>G (p.Glu441Gly)	MAMDC2 (E441G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122335	NM_153267.5(MAMDC2):c.1351A>G (p.Arg451Gly)	MAMDC2 (R451G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537952	NM_153267.5(MAMDC2):c.1370C>A (p.Ala457Asp)	MAMDC2 (A457D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778428	NM_153267.5(MAMDC2):c.1455C>A (p.Ala485=)	MAMDC2, MAMDC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3122336	NM_153267.5(MAMDC2):c.1474C>G (p.Gln492Glu)	MAMDC2, MAMDC2-AS1 (Q492E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2212651	NM_153267.5(MAMDC2):c.1511C>T (p.Pro504Leu)	MAMDC2, MAMDC2-AS1 (P504L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284417	NM_153267.5(MAMDC2):c.1574G>A (p.Arg525Gln)	MAMDC2, MAMDC2-AS1 (R525Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779927	NM_153267.5(MAMDC2):c.1581C>T (p.Ser527=)	MAMDC2, MAMDC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2334559	NM_153267.5(MAMDC2):c.1635T>A (p.Asp545Glu)	MAMDC2, MAMDC2-AS1 (D545E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292742	NM_153267.5(MAMDC2):c.1652G>A (p.Gly551Asp)	MAMDC2, SMC5-DT (G551D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292743	NM_153267.5(MAMDC2):c.1667T>C (p.Ile556Thr)	MAMDC2, SMC5-DT (I556T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465533	NM_153267.5(MAMDC2):c.1702C>T (p.Arg568Cys)	MAMDC2, SMC5-DT (R568C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383437	NM_153267.5(MAMDC2):c.1721T>C (p.Leu574Pro)	MAMDC2, SMC5-DT (L574P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713716	NM_153267.5(MAMDC2):c.1874G>A (p.Arg625Gln)	MAMDC2, SMC5-DT (R625Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 778429	NM_153267.5(MAMDC2):c.1937T>C (p.Val646Ala)	MAMDC2, SMC5-DT (V646A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3122337	NM_153267.5(MAMDC2):c.1943T>C (p.Ile648Thr)	MAMDC2, SMC5-DT (I648T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376875	NM_153267.5(MAMDC2):c.2000T>C (p.Met667Thr)	MAMDC2, SMC5-DT (M667T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234686	NM_153267.5(MAMDC2):c.2009C>G (p.Thr670Arg)	MAMDC2, SMC5-DT (T670R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684579	GRCh37/hg19 9q21.12(chr9:72536236-72776761)x3	MAMDC2	Copy number gain	not provided	GUncertain significance
Select item 2684578	GRCh37/hg19 9q21.12(chr9:72519172-73192366)x3	CFAP95, KLF9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685094	GRCh37/hg19 9q21.12(chr9:72519550-73191986)x3	KLF9, SMC5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443719	GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1	ABHD17B, ALDH1A1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395596	GRCh37/hg19 9q21.12(chr9:72628750-73183334)x3	MAMDC2, SMC5 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 93