MAST4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 146452	GRCh38/hg38 5q12.3(chr5:65211728-66746761)x3	ADAMTS6, CENPK +41 more	Copy number gain	See cases	GUncertain significance
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153286	GRCh38/hg38 5q12.3-13.1(chr5:66201296-68094987)x1	CD180, LINC02065 +38 more	Copy number loss	See cases	GUncertain significance
Select item 2405590	NM_001164664.2(MAST4):c.40C>T (p.Arg14Cys)	MAST4 (R14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342702	NM_001164664.2(MAST4):c.101C>T (p.Pro34Leu)	MAST4 (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655496	NM_001164664.2(MAST4):c.336C>T (p.Ser112=)	LOC129993990, MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062340	NC_000005.10:g.(?_66758973)_(67006046_?)del	LOC126807413, LOC126807414 +6 more	Deletion	Epilepsy syndrome	GUncertain significance
Select item 713220	NM_001164664.2(MAST4):c.390C>T (p.Pro130=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1205923	NM_001164664.2(MAST4):c.400C>T (p.Arg134Trp)	MAST4 (R134W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713078	NM_001164664.2(MAST4):c.483G>A (p.Gln161=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409446	NM_001164664.2(MAST4):c.642+40075G>A	MAST4 (R9Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1679665	NM_001164664.2(MAST4):c.642+55458C>T	MAST4	Single nucleotide variant (intron variant)	MAST-associated epilepsy syndrome	GUncertain significance
Select item 2326420	NM_001164664.2(MAST4):c.680G>A (p.Arg227Gln)	MAST4 (R227Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358868	NM_001164664.2(MAST4):c.692G>A (p.Arg231Gln)	MAST4 (R22Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338543	NM_001164664.2(MAST4):c.695A>G (p.Lys232Arg)	MAST4 (K232R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253411	NM_001164664.2(MAST4):c.908T>G (p.Val303Gly)	MAST4 (V114G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485936	NM_001164664.2(MAST4):c.978C>G (p.His326Gln)	MAST4 (H132Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123854	NM_001164664.2(MAST4):c.988A>G (p.Lys330Glu)	MAST4 (K129E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486696	NM_001164664.2(MAST4):c.1018A>G (p.Thr340Ala)	MAST4 (T146A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230610	NM_001164664.2(MAST4):c.1079G>A (p.Arg360His)	MAST4 (R360H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240592	NM_001164664.2(MAST4):c.1100A>G (p.His367Arg)	MAST4 (H178R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339766	NM_001164664.2(MAST4):c.1198C>A (p.Pro400Thr)	MAST4 (P194T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467769	NM_001164664.2(MAST4):c.1309C>G (p.Arg437Gly)	MAST4 (R231G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123882	NM_001164664.2(MAST4):c.1310G>A (p.Arg437Gln)	MAST4 (R231Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717288	NM_001164664.2(MAST4):c.1357-10T>C	MAST4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2308866	NM_001164664.2(MAST4):c.1360C>T (p.His454Tyr)	MAST4 (H248Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123883	NM_001164664.2(MAST4):c.1386G>T (p.Leu462Phe)	MAST4 (L256F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123884	NM_001164664.2(MAST4):c.1406T>C (p.Val469Ala)	MAST4 (V275A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601824	NM_001164664.2(MAST4):c.1441C>T (p.Arg481Trp)	MAST4 (R484W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301252	NM_001164664.2(MAST4):c.1526G>T (p.Gly509Val)	MAST4 (G303V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486695	NM_001164664.2(MAST4):c.1636C>A (p.Pro546Thr)	MAST4 (P340T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123844	NM_001164664.2(MAST4):c.1666A>G (p.Asn556Asp)	MAST4 (N367D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123845	NM_001164664.2(MAST4):c.1685G>A (p.Arg562Gln)	MAST4 (R361Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123846	NM_001164664.2(MAST4):c.1739C>G (p.Ala580Gly)	MAST4 (A391G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207796	NM_001164664.2(MAST4):c.1742A>G (p.Tyr581Cys)	MAST4 (Y380C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328642	NM_001164664.2(MAST4):c.1777C>T (p.Arg593Trp)	MAST4 (R593W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782699	NM_001164664.2(MAST4):c.2043G>A (p.Leu681=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3123847	NM_001164664.2(MAST4):c.2065A>G (p.Ile689Val)	MAST4 (I483V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123848	NM_001164664.2(MAST4):c.2119A>G (p.Ile707Val)	MAST4 (I501V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300553	NM_001164664.2(MAST4):c.2526C>G (p.Phe842Leu)	MAST4 (F845L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374663	NM_001164664.2(MAST4):c.2539G>A (p.Asp847Asn)	MAST4 (D641N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223247	NM_001164664.2(MAST4):c.2684A>G (p.Asn895Ser)	MAST4 (N895S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809802	NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)	MAST4 (I692T +5 more)	Single nucleotide variant (missense variant)	Infantile spasms	GLikely pathogenic
Select item 3123849	NM_001164664.2(MAST4):c.2773G>A (p.Glu925Lys)	MAST4 (E731K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655497	NM_001164664.2(MAST4):c.3036C>G (p.Ala1012=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2378915	NM_001164664.2(MAST4):c.3143G>A (p.Cys1048Tyr)	MAST4 (C1048Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526904	NM_001164664.2(MAST4):c.3187G>A (p.Ala1063Thr)	MAST4 (A1063T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123850	NM_001164664.2(MAST4):c.3218G>C (p.Ser1073Thr)	MAST4 (S1076T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374516	NM_001164664.2(MAST4):c.3299T>C (p.Met1100Thr)	MAST4 (M1033T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396404	NM_001164664.2(MAST4):c.3368G>A (p.Arg1123Gln)	MAST4 (R934Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778190	NM_001164664.2(MAST4):c.3391T>A (p.Ser1131Thr)	MAST4 (S870T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2388165	NM_001164664.2(MAST4):c.3422C>T (p.Pro1141Leu)	MAST4 (P885L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321617	NM_001164664.2(MAST4):c.3425T>C (p.Ile1142Thr)	MAST4 (I874T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982228	NM_001164664.2(MAST4):c.3475C>T (p.Arg1159Trp)	MAST4 (R1159W +4 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 2240975	NM_001164664.2(MAST4):c.3499A>T (p.Ile1167Phe)	MAST4 (I961F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655498	NM_001164664.2(MAST4):c.3519C>T (p.Ile1173=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701694	NM_001164664.2(MAST4):c.3526-3T>C	MAST4	Single nucleotide variant (intron variant)	MAST4-associated generalized epilepsy	GUncertain significance
Select item 2655499	NM_001164664.2(MAST4):c.3545C>T (p.Pro1182Leu)	MAST4 (P1115L +8 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2513947	NM_001164664.2(MAST4):c.3566A>G (p.Lys1189Arg)	MAST4 (K1192R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276800	NM_001164664.2(MAST4):c.3596G>A (p.Gly1199Glu)	MAST4 (G1005E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514829	NM_001164664.2(MAST4):c.3833T>C (p.Leu1278Pro)	MAST4 (L1010P +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333015	NM_001164664.2(MAST4):c.3913T>G (p.Leu1305Val)	MAST4 (L1099V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461349	NM_001164664.2(MAST4):c.3922C>G (p.Arg1308Gly)	MAST4 (R1040G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253376	NM_001164664.2(MAST4):c.4012A>G (p.Asn1338Asp)	MAST4 (N1341D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123852	NM_001164664.2(MAST4):c.4071A>T (p.Lys1357Asn)	MAST4 (K1089N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469927	NM_001164664.2(MAST4):c.4096G>A (p.Gly1366Arg)	MAST4 (G1366R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346856	NM_001164664.2(MAST4):c.4227C>G (p.Ile1409Met)	MAST4 (I1153M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711126	NM_001164664.2(MAST4):c.4237T>C (p.Phe1413Leu)	MAST4 (F1219L +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2219580	NM_001164664.2(MAST4):c.4408G>A (p.Val1470Met)	MAST4 (V1209M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809803	NM_001164664.2(MAST4):c.4412C>T (p.Thr1471Ile)	MAST4 (T1203I +8 more)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2543470	NM_001164664.2(MAST4):c.4464C>A (p.Ser1488Arg)	MAST4 (S1220R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508362	NM_001164664.2(MAST4):c.4555G>A (p.Gly1519Ser)	MAST4 (G1263S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123853	NM_001164664.2(MAST4):c.4582G>A (p.Asp1528Asn)	MAST4 (D1267N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327734	NM_001164664.2(MAST4):c.4625A>G (p.Asp1542Gly)	MAST4 (D1281G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537382	NM_001164664.2(MAST4):c.4803C>A (p.Ser1601Arg)	MAST4 (S1407R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512207	NM_001164664.2(MAST4):c.4835G>A (p.Ser1612Asn)	MAST4 (S1406N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512208	NM_001164664.2(MAST4):c.4836C>A (p.Ser1612Arg)	MAST4 (S1356R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285573	NM_001164664.2(MAST4):c.4913G>A (p.Arg1638Gln)	MAST4 (R1432Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231696	NM_001164664.2(MAST4):c.4930A>G (p.Thr1644Ala)	MAST4 (T1383A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218265	NM_001164664.2(MAST4):c.5153T>C (p.Leu1718Pro)	MAST4 (L1457P +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259214	NM_001164664.2(MAST4):c.5167G>A (p.Val1723Ile)	MAST4 (V1467I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278251	NM_001164664.2(MAST4):c.5230A>G (p.Ser1744Gly)	MAST4 (S1483G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223681	NM_001164664.2(MAST4):c.5266G>A (p.Val1756Ile)	MAST4 (V1756I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593168	NM_001164664.2(MAST4):c.5272C>T (p.Leu1758Phe)	MAST4 (L1564F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336106	NM_001164664.2(MAST4):c.5378G>A (p.Arg1793Lys)	MAST4 (R1587K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381386	NM_001164664.2(MAST4):c.5462C>T (p.Pro1821Leu)	MAST4 (P1565L +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383280	NM_001164664.2(MAST4):c.5498G>A (p.Gly1833Asp)	MAST4 (G1836D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364162	NM_001164664.2(MAST4):c.5554G>C (p.Asp1852His)	MAST4 (D1591H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621591	NM_001164664.2(MAST4):c.5567C>T (p.Ala1856Val)	MAST4 (A1595V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222453	NM_001164664.2(MAST4):c.5644G>A (p.Gly1882Ser)	MAST4 (G1614S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491214	NM_001164664.2(MAST4):c.5666T>C (p.Val1889Ala)	MAST4 (V1695A +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242075	NM_001164664.2(MAST4):c.5688C>G (p.Phe1896Leu)	MAST4 (F1829L +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336912	NM_001164664.2(MAST4):c.5719G>T (p.Ala1907Ser)	MAST4 (A1639S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123857	NM_001164664.2(MAST4):c.5803C>G (p.Pro1935Ala)	MAST4 (P1674A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462162	NM_001164664.2(MAST4):c.5852C>G (p.Ala1951Gly)	MAST4 (A1695G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123858	NM_001164664.2(MAST4):c.5857C>A (p.Pro1953Thr)	MAST4 (P1692T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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