Related gene-specific medical variations for Gene (Select 57724) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162198	NM_213602.3(SIGLEC15):c.613G>T (p.Gly205Cys)	EPG5, SIGLEC15 (G205C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162197	NM_213602.3(SIGLEC15):c.293C>T (p.Ala98Val)	EPG5, SIGLEC15 (A98V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162196	NM_213602.3(SIGLEC15):c.190T>G (p.Cys64Gly)	EPG5, SIGLEC15 (C64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162195	NM_213602.3(SIGLEC15):c.158G>C (p.Ser53Thr)	EPG5, SIGLEC15 (S53T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089476	NM_020964.3(EPG5):c.1306A>C (p.Ile436Leu)	EPG5, LOC126862737 (I436L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064879	NM_020964.3(EPG5):c.5490C>A (p.Tyr1830Ter)	EPG5 (Y1830*)	Single nucleotide variant (nonsense)	Vici syndrome	GUncertain significance
Select item 3024803	NM_213602.3(SIGLEC15):c.984G>A (p.Pro328=)	EPG5, SIGLEC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014503	NM_020964.3(EPG5):c.1389+18G>T	EPG5, LOC126862737	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3008777	NM_020964.3(EPG5):c.1341T>C (p.Asn447=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2998808	NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)	EPG5, LOC126862737 (Q451*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2969429	NM_020964.3(EPG5):c.1311T>C (p.Ser437=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2899328	NM_020964.3(EPG5):c.1389+12G>A	EPG5, LOC126862737	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2879892	NM_020964.3(EPG5):c.1272C>T (p.Ser424=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2879633	NM_020964.3(EPG5):c.1362T>C (p.Asp454=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2874558	NM_020964.3(EPG5):c.1338T>G (p.Val446=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2856568	NM_020964.3(EPG5):c.1389+2T>G	EPG5, LOC126862737	Single nucleotide variant (splice donor variant)	Vici syndrome	GLikely pathogenic
Select item 2809906	NM_020964.3(EPG5):c.1254G>T (p.Ala418=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2800624	NM_020964.3(EPG5):c.1253-15A>G	EPG5, LOC126862737	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2768390	NM_020964.3(EPG5):c.1371T>C (p.Leu457=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2764606	NM_020964.3(EPG5):c.4809+20C>T	EPG5, LOC126862736	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2689026	NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)	EPG5	Deletion (inframe_deletion)	Vici syndrome	GUncertain significance
Select item 2687932	NM_001410858.1(EPG5):c.7577T>C (p.Phe2526Ser)	EPG5 (F2526S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2648698	NM_213602.3(SIGLEC15):c.855C>T (p.Arg285=)	EPG5, SIGLEC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648697	NM_213602.3(SIGLEC15):c.503C>G (p.Pro168Arg)	EPG5, SIGLEC15 (P168R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576070	NM_020964.3(EPG5):c.1442del (p.Asn481fs)	EPG5 (N481fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2576067	NM_020964.3(EPG5):c.2258-878C>T	EPG5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2553452	NM_213602.3(SIGLEC15):c.113G>T (p.Ser38Ile)	EPG5, SIGLEC15 (S38I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539991	NM_213602.3(SIGLEC15):c.472C>T (p.His158Tyr)	EPG5, SIGLEC15 (H158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514863	NM_213602.3(SIGLEC15):c.35C>T (p.Ala12Val)	EPG5, SIGLEC15 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2513331	NM_213602.3(SIGLEC15):c.824C>T (p.Ala275Val)	EPG5, SIGLEC15 (A275V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481227	NM_213602.3(SIGLEC15):c.551G>A (p.Arg184His)	EPG5, SIGLEC15 (R184H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473450	NM_213602.3(SIGLEC15):c.296G>C (p.Arg99Pro)	EPG5, SIGLEC15 (R99P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466436	NM_213602.3(SIGLEC15):c.90C>G (p.Asn30Lys)	EPG5, SIGLEC15 (N30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441268	NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)	EPG5 (E1802L)	Indel (missense variant)	Vici syndrome	GUncertain significance
Select item 2441267	NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)	EPG5 (I827V)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2441266	NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser)	EPG5 (T565S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2441265	NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)	EPG5 (G1606S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2406405	NM_213602.3(SIGLEC15):c.700C>G (p.Arg234Gly)	EPG5, SIGLEC15 (R234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384635	NM_213602.3(SIGLEC15):c.673G>A (p.Glu225Lys)	EPG5, SIGLEC15 (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379899	NM_213602.3(SIGLEC15):c.185T>G (p.Leu62Arg)	EPG5, SIGLEC15 (L62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364019	NM_213602.3(SIGLEC15):c.333C>G (p.His111Gln)	EPG5, SIGLEC15 (H111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360943	NM_213602.3(SIGLEC15):c.631G>A (p.Val211Met)	EPG5, SIGLEC15 (V211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356866	NM_213602.3(SIGLEC15):c.239T>C (p.Ile80Thr)	EPG5, SIGLEC15 (I80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335055	NM_213602.3(SIGLEC15):c.535C>G (p.Pro179Ala)	EPG5, SIGLEC15 (P179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324357	NM_213602.3(SIGLEC15):c.170G>A (p.Gly57Asp)	EPG5, SIGLEC15 (G57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303222	NM_213602.3(SIGLEC15):c.388G>C (p.Glu130Gln)	EPG5, SIGLEC15 (E130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292059	NM_020964.3(EPG5):c.1322T>G (p.Met441Arg)	EPG5, LOC126862737 (M441R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277904	NM_213602.3(SIGLEC15):c.538G>A (p.Ala180Thr)	EPG5, SIGLEC15 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254539	NM_213602.3(SIGLEC15):c.533G>C (p.Ser178Thr)	EPG5, SIGLEC15 (S178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248290	NM_213602.3(SIGLEC15):c.93G>C (p.Leu31Phe)	EPG5, SIGLEC15 (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224513	NM_213602.3(SIGLEC15):c.382C>A (p.Arg128Ser)	EPG5, SIGLEC15 (R128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219431	NM_213602.3(SIGLEC15):c.605C>A (p.Pro202Gln)	EPG5, SIGLEC15 (P202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2195494	NM_020964.3(EPG5):c.1270A>G (p.Ser424Gly)	EPG5, LOC126862737 (S424G)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2190560	NM_020964.3(EPG5):c.1356T>G (p.Phe452Leu)	EPG5, LOC126862737 (F452L)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2180820	NM_020964.3(EPG5):c.1389+12G>C	EPG5, LOC126862737	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2172359	NM_020964.3(EPG5):c.1358A>T (p.His453Leu)	EPG5, LOC126862737 (H453L)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2066933	NM_020964.3(EPG5):c.1308T>C (p.Ile436=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2031550	NM_020964.3(EPG5):c.1261_1263del (p.Gln421del)	EPG5, LOC126862737 (Q421del)	Deletion (inframe_indel +1 more)	Vici syndrome	GUncertain significance
Select item 1879395	NM_213602.3(SIGLEC15):c.642G>A (p.Pro214=)	EPG5, SIGLEC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1879394	NM_213602.3(SIGLEC15):c.606G>A (p.Pro202=)	SIGLEC15, EPG5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1507946	NM_020964.3(EPG5):c.1312G>A (p.Val438Ile)	EPG5, LOC126862737 (V438I)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1499385	NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu)	EPG5, LOC126862737 (K420E)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1368886	NM_020964.3(EPG5):c.1346A>T (p.Asp449Val)	LOC126862737, EPG5 (D449V)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1342487	NM_020964.3(EPG5):c.7443-621A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GUncertain significance
Select item 1324337	NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter)	EPG5 (W1159*)	Single nucleotide variant (nonsense)	Vici syndrome	GLikely pathogenic
Select item 1293079	NM_020964.3(EPG5):c.1253-224del	EPG5, LOC126862737	Deletion (intron variant)	not provided	GBenign
Select item 1292756	NM_020964.3(EPG5):c.1253-160G>A	EPG5, LOC126862737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288258	NM_020964.3(EPG5):c.1253-226_1253-224del	EPG5, LOC126862737	Deletion (intron variant)	not provided	GBenign
Select item 1272640	NM_020964.3(EPG5):c.1253-307C>T	EPG5, LOC126862737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269941	NM_020964.3(EPG5):c.4809+305A>G	EPG5, LOC126862736	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249159	NM_020964.3(EPG5):c.1253-161T>G	EPG5, LOC126862737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247677	NM_213602.3(SIGLEC15):c.817T>C (p.Phe273Leu)	EPG5, SIGLEC15 (F273L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1246414	NM_020964.3(EPG5):c.1253-37A>G	EPG5, LOC126862737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238073	NM_020964.3(EPG5):c.1389+133_1389+135del	EPG5, LOC126862737	Deletion (intron variant)	not provided	GBenign
Select item 1235613	NM_020964.3(EPG5):c.1253-272T>C	EPG5, LOC126862737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211205	NM_020964.3(EPG5):c.4809+65A>G	EPG5, LOC126862736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 936687	NM_020964.3(EPG5):c.1318T>C (p.Phe440Leu)	EPG5, LOC126862737 (F440L)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 844744	NM_020964.3(EPG5):c.1254del (p.Ser419fs)	EPG5, LOC126862737 (S419fs)	Deletion (frameshift variant)	Vici syndrome	GPathogenic
Select item 844280	NM_020964.3(EPG5):c.1293A>G (p.Gln431=)	LOC126862737, EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 813673	NM_020964.3(EPG5):c.44C>G (p.Ala15Gly)	EPG5 (A15G)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813672	NM_020964.3(EPG5):c.2941G>A (p.Asp981Asn)	EPG5 (D981N)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 804426	NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs)	EPG5 (V1463fs)	Deletion (frameshift variant)	Vici syndrome	GLikely pathogenic
Select item 712353	NM_020964.3(EPG5):c.1254G>A (p.Ala418=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GBenign
Select item 626240	NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro)	EPG5, LOC126862737 (L457P)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 620484	NM_020964.3(EPG5):c.1381C>T (p.Gln461Ter)	EPG5, LOC126862737 (Q461*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 591988	NM_020964.3(EPG5):c.4195G>T (p.Glu1399Ter)	EPG5 (E1399*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591421	NM_020964.3(EPG5):c.7304dup (p.Asn2435fs)	EPG5 (N2435fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 581923	NM_020964.3(EPG5):c.1253-1G>A	EPG5, LOC126862737	Single nucleotide variant (splice acceptor variant)	Vici syndrome	GPathogenic
Select item 466236	NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)	EPG5, LOC126862737 (S424N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 267463	NM_020964.3(EPG5):c.6766+1G>C	EPG5	Single nucleotide variant (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267462	NM_020964.3(EPG5):c.5792del (p.Leu1931fs)	EPG5 (L1931fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267461	NM_020964.3(EPG5):c.4230G>A (p.Trp1410Ter)	EPG5 (W1410*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267460	NM_020964.3(EPG5):c.4108del (p.Leu1370fs)	EPG5 (L1370fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267459	NM_020964.3(EPG5):c.3152C>G (p.Ser1051Ter)	EPG5 (S1051*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267457	NM_020964.3(EPG5):c.2598A>G (p.Gln866=)	EPG5	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267456	NM_020964.3(EPG5):c.1188del (p.Ser395_Tyr396insTer)	EPG5	Deletion (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267455	NM_020964.3(EPG5):c.2T>C (p.Met1Thr)	EPG5 (M1T)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267453	NM_020964.3(EPG5):c.3582G>A (p.Lys1194=)	EPG5	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 267450	Single allele	EPG5	Variation	Vici syndrome	GPathogenic

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Links from Gene

Items: 99