MAMDC2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 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 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 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 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 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 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 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	ABCA1, ABCA2 +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	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +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)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +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	ABCA1, ABCA2 +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	ABHD17B, ACO1 +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)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +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	TRMT10B, TRPM3 +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)	UBQLN1, UCK1 +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	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 86