MIER2[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 148014	GRCh38/hg38 19p13.3(chr19:259395-307776)x3	LOC108281123, LOC129391009 +4 more	Copy number gain	See cases	GUncertain significance
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 146863	GRCh38/hg38 19p13.3(chr19:260928-307812)x3	LOC108281123, LOC129391009 +4 more	Copy number gain	See cases	GBenign
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 153004	GRCh38/hg38 19p13.3(chr19:293260-314516)x3	LOC129391010, MIER2	Copy number gain	See cases	GBenign
Select item 2648840	NC_000019.10:g.302496_302549del	MIER2	Deletion	not provided	GLikely benign
Select item 2516885	NM_017550.3(MIER2):c.1624G>A (p.Val542Met)	MIER2 (V535M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126448	NM_017550.3(MIER2):c.1478C>T (p.Pro493Leu)	MIER2 (P409L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358773	NM_017550.3(MIER2):c.1423G>A (p.Ala475Thr)	MIER2 (A477T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549122	NM_017550.3(MIER2):c.1414G>A (p.Val472Met)	MIER2 (V429M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510928	NM_017550.3(MIER2):c.1387G>C (p.Glu463Gln)	MIER2 (E379Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589614	NM_017550.3(MIER2):c.1351G>A (p.Asp451Asn)	MIER2 (D451N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325844	NM_017550.3(MIER2):c.1264C>T (p.Pro422Ser)	MIER2 (P422S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221934	NM_017550.3(MIER2):c.1225G>A (p.Gly409Ser)	MIER2 (G373S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126447	NM_017550.3(MIER2):c.1195A>C (p.Thr399Pro)	LOC129391010, MIER2 (T363P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591355	NM_017550.3(MIER2):c.1144G>A (p.Asp382Asn)	LOC129391010, MIER2 (D384N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126445	NM_017550.3(MIER2):c.1097C>T (p.Pro366Leu)	MIER2 (P330L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126444	NM_017550.3(MIER2):c.1082G>A (p.Arg361Gln)	MIER2 (R277Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648841	NM_017550.3(MIER2):c.918G>A (p.Glu306=)	MIER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598122	NM_017550.3(MIER2):c.842T>G (p.Val281Gly)	MIER2 (V245G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405591	NM_017550.3(MIER2):c.842T>C (p.Val281Ala)	MIER2 (V283A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308912	NM_017550.3(MIER2):c.833A>G (p.Asn278Ser)	MIER2 (N242S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273067	NM_017550.3(MIER2):c.790G>A (p.Val264Met)	MIER2 (V266M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126456	NM_017550.3(MIER2):c.746G>T (p.Arg249Leu)	MIER2 (R249L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126455	NM_017550.3(MIER2):c.742C>T (p.Arg248Trp)	MIER2 (R212W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340633	NM_017550.3(MIER2):c.710A>T (p.Glu237Val)	MIER2 (E153V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126454	NM_017550.3(MIER2):c.592A>G (p.Met198Val)	MIER2 (M162V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337207	NM_017550.3(MIER2):c.556G>T (p.Asp186Tyr)	MIER2 (D102Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600016	NM_017550.3(MIER2):c.487A>G (p.Ser163Gly)	MIER2 (S127G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454705	NM_017550.3(MIER2):c.469G>C (p.Asp157His)	MIER2 (D121H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126453	NM_017550.3(MIER2):c.443C>T (p.Pro148Leu)	MIER2 (P64L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126452	NM_017550.3(MIER2):c.440C>T (p.Thr147Ile)	MIER2 (T149I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365285	NM_017550.3(MIER2):c.433G>A (p.Asp145Asn)	MIER2 (D109N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375248	NM_017550.3(MIER2):c.425C>T (p.Ser142Phe)	MIER2 (S106F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559685	NM_017550.3(MIER2):c.299A>T (p.Asp100Val)	MIER2 (D102V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235991	NM_017550.3(MIER2):c.275C>G (p.Ala92Gly)	MIER2 (A8G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274035	NM_017550.3(MIER2):c.256C>T (p.Pro86Ser)	MIER2 (P88S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309845	NM_017550.3(MIER2):c.212A>G (p.Lys71Arg)	MIER2 (K71R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126450	NM_017550.3(MIER2):c.208C>T (p.Pro70Ser)	MIER2 (P70S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375247	NM_017550.3(MIER2):c.164G>C (p.Ser55Thr)	MIER2 (S55T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384185	NM_017550.3(MIER2):c.43G>T (p.Val15Phe)	MIER2 (V15F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278618	NM_017550.3(MIER2):c.33T>A (p.Ser11Arg)	MIER2 (S11R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316356	NM_017550.3(MIER2):c.17C>T (p.Ser6Leu)	MIER2 (S6L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126449	NM_017550.3(MIER2):c.14C>A (p.Ser5Tyr)	MIER2 (S5Y +1 more)	Single nucleotide variant (missense variant +2 more)	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 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	UBXN6, UHRF1 +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)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 1340390	GRCh37/hg19 19p13.3(chr19:260912-379917)x1	MIER2, PLPP2 +1 more	Copy number loss	not provided	GUncertain significance
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	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
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)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
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

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Items: 69