ClinVar for Gene (Select 2013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088783	NM_001424.6(EMP2):c.73G>A (p.Asp25Asn)	EMP2 (D25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088782	NM_001424.6(EMP2):c.70G>A (p.Val24Ile)	EMP2 (V24I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088781	NM_001424.6(EMP2):c.196G>A (p.Ala66Thr)	EMP2 (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060612	NM_001424.6(EMP2):c.459C>A (p.Thr153=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition	GLikely benign
Select item 3055582	NM_001424.6(EMP2):c.*9A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	EMP2-related condition	GLikely benign
Select item 3042834	NM_001424.6(EMP2):c.219T>C (p.Ile73=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition	GLikely benign
Select item 3029451	NM_001424.6(EMP2):c.294C>A (p.Thr98=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition	GLikely benign
Select item 2993087	NM_001424.6(EMP2):c.432C>T (p.Ile144=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956411	NM_001424.6(EMP2):c.169+12T>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897427	NM_001424.6(EMP2):c.72C>T (p.Val24=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685553	GRCh37/hg19 16p13.13(chr16:10671445-10864286)x1	EMP2, NUBP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2622725	NM_001424.6(EMP2):c.110A>G (p.Asp37Gly)	EMP2 (D37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615489	NM_001424.6(EMP2):c.263G>T (p.Arg88Leu)	EMP2 (R88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540485	NM_001424.6(EMP2):c.367A>G (p.Ile123Val)	EMP2 (I123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530627	NM_001424.6(EMP2):c.347A>G (p.Tyr116Cys)	EMP2 (Y116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 2422627	NC_000016.9:g.(?_10637407)_(10971259_?)del	CIITA, EMP2 +3 more	Deletion	MHC class II deficiency	GPathogenic
Select item 2419357	NM_001424.6(EMP2):c.417C>T (p.Tyr139=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417332	NM_001424.6(EMP2):c.383C>T (p.Ala128Val)	EMP2 (A128V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268005	NM_001424.6(EMP2):c.91G>A (p.Gly31Arg)	EMP2 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256782	NM_001424.6(EMP2):c.195G>C (p.Gln65His)	EMP2 (Q65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226461	NM_001424.6(EMP2):c.466A>T (p.Ser156Cys)	EMP2 (S156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220127	NM_001424.6(EMP2):c.334G>A (p.Ala112Thr)	EMP2 (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215913	NM_001424.6(EMP2):c.397G>A (p.Val133Met)	EMP2 (V133M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214763	NM_001424.6(EMP2):c.262C>T (p.Arg88Cys)	EMP2 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202929	NM_001424.6(EMP2):c.138G>A (p.Thr46=)	EMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2180054	NM_001424.6(EMP2):c.427T>C (p.Tyr143His)	EMP2 (Y143H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177903	NM_001424.6(EMP2):c.285T>C (p.Phe95=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition +1 more	GLikely benign
Select item 2174733	NM_001424.6(EMP2):c.237C>T (p.Phe79=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171015	NM_001424.6(EMP2):c.246C>T (p.Phe82=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140842	NM_001424.6(EMP2):c.359G>A (p.Arg120His)	EMP2 (R120H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2077729	NM_001424.6(EMP2):c.361G>A (p.Glu121Lys)	EMP2 (E121K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2077728	NM_001424.6(EMP2):c.451G>C (p.Ala151Pro)	EMP2 (A151P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077004	NM_001424.6(EMP2):c.27C>T (p.Ile9=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition +1 more	GBenign/Likely benign
Select item 2066836	NM_001424.6(EMP2):c.316+4A>G	EMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2049965	NM_001424.6(EMP2):c.228C>T (p.Cys76=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038547	NM_001424.6(EMP2):c.128C>T (p.Thr43Ile)	EMP2 (T43I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2038102	NM_001424.6(EMP2):c.188C>T (p.Ala63Val)	EMP2 (A63V)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 10 +2 more	GUncertain significance
Select item 1989975	NM_001424.6(EMP2):c.316+14C>T	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970405	NM_001424.6(EMP2):c.316+9A>C	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958639	NM_001424.6(EMP2):c.170-12C>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948446	NM_001424.6(EMP2):c.390C>A (p.Phe130Leu)	EMP2 (F130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928050	NM_001424.6(EMP2):c.383C>A (p.Ala128Glu)	EMP2 (A128E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897058	NM_001424.6(EMP2):c.30C>T (p.Ala10=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809045	GRCh37/hg19 16p13.2-13.13(chr16:10473817-10637006)x1	ATF7IP2, EMP2	Copy number loss	not provided	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1706774	NM_001424.6(EMP2):c.142_145A[4]GAAAA[1]	EMP2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1704905	NM_001424.6(EMP2):c.*137A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1604999	NM_001424.6(EMP2):c.129C>T (p.Thr43=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581494	NM_001424.6(EMP2):c.169+7G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581264	NM_001424.6(EMP2):c.468C>T (p.Ser156=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563987	NM_001424.6(EMP2):c.180G>A (p.Thr60=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	PRM3, TEKT5 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 1366154	NM_001424.6(EMP2):c.232G>A (p.Ala78Thr)	EMP2 (A78T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328659	NM_001424.6(EMP2):c.-6G>T	EMP2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1328635	NM_001424.6(EMP2):c.*140A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1312429	NM_001424.6(EMP2):c.497G>A (p.Arg166His)	EMP2 (R166H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 10 +2 more	GUncertain significance
Select item 1287362	NM_001424.6(EMP2):c.*141A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280605	NM_001424.6(EMP2):c.170-198A>G	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272750	NM_001424.6(EMP2):c.79-144C>T	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268923	NM_001424.6(EMP2):c.170-234G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266482	NM_001424.6(EMP2):c.*172G>C	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1264243	NM_001424.6(EMP2):c.*131A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1258771	NM_001424.6(EMP2):c.317-136T>C	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253217	NM_001424.6(EMP2):c.170-54A>G	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251512	NM_001424.6(EMP2):c.-60-172T>C	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248762	NM_001424.6(EMP2):c.316+148TG[11]	EMP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1246326	NM_001424.6(EMP2):c.79-91T>C	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243513	NM_001424.6(EMP2):c.*164del	EMP2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1239902	NM_001424.6(EMP2):c.170-282G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237768	NM_001424.6(EMP2):c.78+50A>G	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237080	NM_001424.6(EMP2):c.141_142insG	EMP2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1230583	NM_001424.6(EMP2):c.189G>A (p.Ala63=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1229140	NM_001424.6(EMP2):c.147_152dup	EMP2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1225271	NM_001424.6(EMP2):c.170-151G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224057	NM_001424.6(EMP2):c.169+9G>C	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222762	NM_001424.6(EMP2):c.79-173C>T	EMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220016	NM_001424.6(EMP2):c.151A>G (p.Ile51Val)	EMP2 (I51V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1217452	NM_001424.6(EMP2):c.170-126G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214088	NM_001424.6(EMP2):c.170-131T>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206497	NM_001424.6(EMP2):c.316+148TG[12]	EMP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1201554	NM_001424.6(EMP2):c.402C>T (p.Thr134=)	EMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1201301	NM_001424.6(EMP2):c.*98G>A	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1191904	NM_001424.6(EMP2):c.*132A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1188330	NM_001424.6(EMP2):c.316+248G>A	EMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980085	GRCh37/hg19 16p13.13(chr16:10564571-10623355)x1	ATF7IP2, EMP2	Copy number loss	not provided	GLikely benign
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 688884	GRCh37/hg19 16p13.13(chr16:10570795-10671761)x1	ATF7IP2, EMP2	Copy number loss	not provided	GUncertain significance
Select item 688399	GRCh37/hg19 16p13.13(chr16:10563055-10958954)x1	ATF7IP2, EMP2 +3 more	Copy number loss	not provided	GPathogenic
Select item 688055	GRCh37/hg19 16p13.13(chr16:10575823-10657664)x1	ATF7IP2, EMP2	Copy number loss	not provided	GUncertain significance
Select item 687295	GRCh37/hg19 16p13.13(chr16:10654136-10705695)x3	EMP2	Copy number gain	not provided	GUncertain significance
Select item 686080	GRCh37/hg19 16p13.13(chr16:10596068-10637608)x3	EMP2	Copy number gain	not provided	GUncertain significance
Select item 684953	GRCh37/hg19 16p13.2-13.13(chr16:10196800-11037738)x1	DEXI, EMP2 +6 more	Copy number loss	not provided	GPathogenic
Select item 592042	NM_001424.6(EMP2):c.78+1G>A	EMP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 591124	NM_001424.6(EMP2):c.422A>G (p.Tyr141Cys)	EMP2 (Y141C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 564271	GRCh37/hg19 16p13.13(chr16:10601086-10663038)x1	EMP2	Copy number loss	not provided	GUncertain significance
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic

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