MADCAM1[gene] - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 2589019	NM_130760.3(MADCAM1):c.29C>T (p.Ala10Val)	MADCAM1 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347734	NM_130760.3(MADCAM1):c.127C>T (p.Arg43Cys)	MADCAM1 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204125	NM_130760.3(MADCAM1):c.149C>T (p.Ala50Val)	MADCAM1 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271357	NM_130760.3(MADCAM1):c.152G>T (p.Cys51Phe)	MADCAM1 (C51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292532	NM_130760.3(MADCAM1):c.166G>A (p.Ala56Thr)	MADCAM1 (A56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121971	NM_130760.3(MADCAM1):c.198C>A (p.Ser66Arg)	MADCAM1 (S66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383394	NM_130760.3(MADCAM1):c.205G>T (p.Ala69Ser)	MADCAM1 (A69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466008	NM_130760.3(MADCAM1):c.286G>A (p.Gly96Ser)	MADCAM1 (G96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121972	NM_130760.3(MADCAM1):c.404C>T (p.Thr135Met)	MADCAM1 (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121973	NM_130760.3(MADCAM1):c.481G>T (p.Ala161Ser)	MADCAM1 (A161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623881	NM_130760.3(MADCAM1):c.505C>G (p.Gln169Glu)	MADCAM1 (Q169E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121974	NM_130760.3(MADCAM1):c.511G>A (p.Glu171Lys)	MADCAM1 (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292535	NM_130760.3(MADCAM1):c.530G>A (p.Gly177Glu)	MADCAM1 (G177E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208711	NM_130760.3(MADCAM1):c.559G>A (p.Glu187Lys)	MADCAM1 (E187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292534	NM_130760.3(MADCAM1):c.584G>A (p.Gly195Glu)	MADCAM1 (G195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513883	NM_130760.3(MADCAM1):c.589C>T (p.Pro197Ser)	MADCAM1 (P197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292533	NM_130760.3(MADCAM1):c.616G>A (p.Ala206Thr)	MADCAM1 (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257953	NM_130760.3(MADCAM1):c.623T>G (p.Met208Arg)	MADCAM1 (M208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121975	NM_130760.3(MADCAM1):c.653G>A (p.Arg218His)	MADCAM1 (R218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292537	NM_130760.3(MADCAM1):c.655C>A (p.Gln219Lys)	MADCAM1 (Q219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121976	NM_130760.3(MADCAM1):c.689C>T (p.Pro230Leu)	MADCAM1, MADCAM1-AS1 (P230L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121977	NM_130760.3(MADCAM1):c.697C>T (p.Pro233Ser)	MADCAM1, MADCAM1-AS1 (P233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121978	NM_130760.3(MADCAM1):c.719C>T (p.Ser240Phe)	MADCAM1, MADCAM1-AS1 (S240F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292536	NM_130760.3(MADCAM1):c.808C>G (p.Pro270Ala)	MADCAM1, MADCAM1-AS1 (P270A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292531	NM_130760.3(MADCAM1):c.842C>T (p.Thr281Ile)	MADCAM1, MADCAM1-AS1 (T281I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359322	NM_130760.3(MADCAM1):c.874C>G (p.Arg292Gly)	MADCAM1, MADCAM1-AS1 (R292G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290728	NM_130760.3(MADCAM1):c.902C>T (p.Thr301Met)	MADCAM1, MADCAM1-AS1 (T301M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353627	NM_130760.3(MADCAM1):c.958G>A (p.Ala320Thr)	MADCAM1, MADCAM1-AS1 (A233T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319898	NM_130760.3(MADCAM1):c.997C>T (p.Leu333Phe)	MADCAM1, MADCAM1-AS1 (L246F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517476	NM_130760.3(MADCAM1):c.1037G>A (p.Arg346Gln)	MADCAM1, MADCAM1-AS1 (R259Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539119	NM_130760.3(MADCAM1):c.1116G>C (p.Arg372Ser)	MADCAM1, MADCAM1-AS1 (R372S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354012	NM_130760.3(MADCAM1):c.1123G>A (p.Gly375Ser)	MADCAM1, MADCAM1-AS1 (G288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609185	NM_130760.3(MADCAM1):c.1128G>T (p.Gln376His)	MADCAM1, MADCAM1-AS1 (Q289H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062396	GRCh37/hg19 19p13.3(chr19:416230-548433)x1	CDC34, CIMAP1D +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3024609	GRCh37/hg19 19p13.3(chr19:496500-590577)x3	BSG, CDC34 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685628	GRCh37/hg19 19p13.3(chr19:260912-548433)x1	C2CD4C, CDC34 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 1809016	GRCh37/hg19 19p13.3(chr19:260912-538303)x3	C2CD4C, CDC34 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1807907	GRCh37/hg19 19p13.3(chr19:260912-508202)x1	C2CD4C, MADCAM1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 1340343	GRCh37/hg19 19p13.3(chr19:352289-548433)x1	C2CD4C, CDC34 +6 more	Copy number loss	not provided	GLikely benign
Select item 980200	GRCh37/hg19 19p13.3(chr19:414714-713630)x3	ODF3L2, CDC34 +12 more	Copy number gain	not provided	GLikely benign
Select item 980199	GRCh37/hg19 19p13.3(chr19:352288-633755)x3	POLRMT, GZMM +9 more	Copy number gain	not provided	GLikely benign
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 688592	GRCh37/hg19 19p13.3(chr19:352288-515126)x3	C2CD4C, MADCAM1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 395031	GRCh37/hg19 19p13.3(chr19:474645-508220)x3	CIMAP1D, MADCAM1 +1 more	Copy number gain	See cases	GBenign
Select item 395022	GRCh37/hg19 19p13.3(chr19:474645-519619)x3	CIMAP1D, MADCAM1 +1 more	Copy number gain	See cases	GLikely benign
Select item 394166	GRCh37/hg19 19p13.3(chr19:474645-509267)x3	CIMAP1D, MADCAM1 +1 more	Copy number gain	See cases	GBenign
Select item 393898	GRCh37/hg19 19p13.3(chr19:467701-519619)x3	CIMAP1D, MADCAM1 +1 more	Copy number gain	See cases	GLikely benign
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 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: 72