7380[HGNC] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2268514	NM_020998.4(MST1):c.2173G>A (p.Gly725Ser)	MST1 (G680S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410249	NM_020998.4(MST1):c.2108G>A (p.Arg703His)	MST1 (R603H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227859	NM_020998.4(MST1):c.2090G>A (p.Arg697Gln)	MST1 (R652Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552317	NM_020998.4(MST1):c.2062G>A (p.Val688Ile)	MST1 (V588I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212525	NM_020998.4(MST1):c.2047A>G (p.Thr683Ala)	MST1 (T695A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345457	NM_020998.4(MST1):c.2017G>A (p.Gly673Ser)	MST1 (G573S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296469	NM_020998.4(MST1):c.2003T>G (p.Val668Gly)	MST1 (V568G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212520	NM_020998.4(MST1):c.1966G>C (p.Glu656Gln)	MST1 (E626Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338655	NM_020998.4(MST1):c.1957C>A (p.Arg653Ser)	MST1 (R623S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212514	NM_020998.4(MST1):c.1952G>A (p.Arg651Gln)	MST1 (R621Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653841	NM_020998.4(MST1):c.1951C>T (p.Arg651Ter)	MST1 (R551* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2508302	NM_020998.4(MST1):c.1937G>A (p.Cys646Tyr)	MST1 (C601Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284659	NM_020998.4(MST1):c.1900A>C (p.Asn634His)	MST1 (N534H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296475	NM_020998.4(MST1):c.1828G>A (p.Val610Met)	MST1 (V565M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361101	NM_020998.4(MST1):c.1765G>A (p.Glu589Lys)	MST1 (E489K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612808	NM_020998.4(MST1):c.1754T>C (p.Leu585Pro)	MST1 (L485P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212492	NM_020998.4(MST1):c.1648G>A (p.Val550Ile)	MST1 (V505I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296473	NM_020998.4(MST1):c.1604G>A (p.Arg535Gln)	MST1 (R490Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304482	NM_020998.4(MST1):c.1603C>T (p.Arg535Trp)	MST1 (R490W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515377	NM_020998.4(MST1):c.1538G>A (p.Arg513Gln)	MST1 (R413Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721569	NM_020998.4(MST1):c.1533C>T (p.Ser511=)	MST1 (A468V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 2689447	NM_020998.4(MST1):c.1502dup (p.His502fs)	MST1 (A458fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2381548	NM_020998.4(MST1):c.1480T>C (p.Ser494Pro)	MST1 (S394P +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2653842	NM_020998.4(MST1):c.1474C>T (p.Arg492Trp)	MST1 (R392W +2 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2616432	NM_020998.4(MST1):c.1460A>G (p.Asp487Gly)	MST1 (D487G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212481	NM_020998.4(MST1):c.1444T>C (p.Cys482Arg)	MST1 (C382R +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3212475	NM_020998.4(MST1):c.1417C>T (p.Pro473Ser)	MST1 (P373S +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2221601	NM_020998.4(MST1):c.1416C>A (p.Asp472Glu)	MST1 (D372E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2227805	NM_020998.4(MST1):c.1405T>C (p.Ser469Pro)	MST1 (S424P +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3212460	NM_020998.4(MST1):c.1355C>T (p.Thr452Ile)	MST1 (P409S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296472	NM_020998.4(MST1):c.1351A>G (p.Arg451Gly)	MST1 (R406G +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2589507	NM_020998.4(MST1):c.1343T>C (p.Met448Thr)	MST1 (M448T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2240593	NM_020998.4(MST1):c.1340C>T (p.Thr447Met)	MST1 (R446* +4 more)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 2653843	NM_020998.4(MST1):c.1317T>C (p.Asp439=)	MST1 (I396T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3296471	NM_020998.4(MST1):c.1301G>A (p.Arg434Gln)	MST1 (R334Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335729	NM_020998.4(MST1):c.1300C>T (p.Arg434Trp)	MST1 (R334W +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2362777	NM_020998.4(MST1):c.1226C>T (p.Ser409Phe)	MST1 (S309F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653844	NM_020998.4(MST1):c.1167G>A (p.Gly389=)	MST1 (G346E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2253935	NM_020998.4(MST1):c.1159G>T (p.Gly387Cys)	MST1 (G287C +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3212441	NM_020998.4(MST1):c.1139G>A (p.Arg380Gln)	MST1 (G379S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374750	NM_020998.4(MST1):c.1124G>A (p.Cys375Tyr)	MST1 (V374I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338509	NM_020998.4(MST1):c.1121G>C (p.Arg374Pro)	MST1 (R374P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212433	NM_020998.4(MST1):c.1094G>A (p.Arg365His)	MST1 (A364T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3068199	NM_020998.4(MST1):c.1063C>T (p.Pro355Ser)	MST1 (P355S)	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 2623718	NM_020998.4(MST1):c.1040G>A (p.Arg347Gln)	MST1 (R347Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2622464	NM_020998.4(MST1):c.992T>A (p.Phe331Tyr)	MST1 (L330I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 769273	NM_020998.4(MST1):c.978G>T (p.Pro326=)	MST1 (R325L)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 769603	NM_020998.4(MST1):c.939T>C (p.Thr313=)	MST1 (L312P)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 3212572	NM_020998.4(MST1):c.917G>A (p.Arg306Gln)	MST1 (G305R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381388	NM_020998.4(MST1):c.907G>A (p.Glu303Lys)	MST1 (E303K)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2597390	NM_020998.4(MST1):c.903G>T (p.Lys301Asn)	MST1 (K301N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2672941	NM_020998.4(MST1):c.849G>T (p.Gly283=)	MST1 (G282V)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 783381	NM_020998.4(MST1):c.643G>C (p.Gly215Arg)	MST1 (G215R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3296474	NM_020998.4(MST1):c.626A>G (p.Asn209Ser)	MST1 (N209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207779	NM_020998.4(MST1):c.503A>G (p.Glu168Gly)	MST1 (E168G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337559	NM_020998.4(MST1):c.468C>G (p.His156Gln)	MST1 (H156Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554412	NM_020998.4(MST1):c.454T>C (p.Phe152Leu)	MST1 (F152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212550	NM_020998.4(MST1):c.364C>T (p.Arg122Trp)	MST1 (R122W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618860	NM_020998.4(MST1):c.364C>G (p.Arg122Gly)	MST1 (R122G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212545	NM_020998.4(MST1):c.335G>A (p.Cys112Tyr)	MST1 (C112Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482798	NM_020998.4(MST1):c.301T>C (p.Ser101Pro)	MST1 (S101P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212532	NM_020998.4(MST1):c.218G>A (p.Arg73His)	MST1 (R73H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369320	NM_020998.4(MST1):c.191T>G (p.Val64Gly)	MST1 (V64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212495	NM_020998.4(MST1):c.172G>A (p.Gly58Arg)	MST1 (G58R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255150	NM_020998.4(MST1):c.158A>T (p.His53Leu)	MST1 (H53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211702	NM_020998.4(MST1):c.131G>A (p.Arg44Gln)	MST1 (R44Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296470	NM_020998.4(MST1):c.104C>G (p.Ser35Trp)	MST1 (S35W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 156207	NM_020998.4(MST1):c.55C>T (p.Pro19Ser)	MST1 (P19S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3212536	NM_020998.4(MST1):c.22G>A (p.Val8Met)	MST1 (V8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286885	NM_020998.4(MST1):c.11G>C (p.Trp4Ser)	MST1 (W4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395338	GRCh37/hg19 3p21.31(chr3:49723098-49728537)x3	MST1, RNF123	Copy number gain	See cases	GBenign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 80