ClinVar for Gene (Select 375449) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293435	NM_001164664.2(MAST4):c.1691A>G (p.Lys564Arg)	MAST4 (K358R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293434	NM_001164664.2(MAST4):c.5338C>T (p.Pro1780Ser)	MAST4 (P1574S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293433	NM_001164664.2(MAST4):c.3020C>G (p.Pro1007Arg)	MAST4 (P1010R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293432	NM_001164664.2(MAST4):c.7168G>A (p.Gly2390Ser)	LOC129993997, MAST4 (G2134S +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3293431	NM_001164664.2(MAST4):c.7115A>G (p.Lys2372Arg)	MAST4 (K2111R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293430	NM_001164664.2(MAST4):c.2465G>A (p.Arg822Lys)	MAST4 (R616K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293429	NM_001164664.2(MAST4):c.5171G>T (p.Arg1724Leu)	MAST4 (R1468L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293428	NM_001164664.2(MAST4):c.689A>G (p.Asn230Ser)	MAST4 (N21S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293427	NM_001164664.2(MAST4):c.7184A>G (p.His2395Arg)	MAST4 (H2201R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293426	NM_001164664.2(MAST4):c.2897G>A (p.Ser966Asn)	MAST4 (S765N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293424	NM_001164664.2(MAST4):c.5198C>T (p.Pro1733Leu)	MAST4 (P1527L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293423	NM_001164664.2(MAST4):c.5327C>G (p.Ala1776Gly)	MAST4 (A1515G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293422	NM_001164664.2(MAST4):c.6530A>G (p.Gln2177Arg)	MAST4 (Q1916R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293421	NM_001164664.2(MAST4):c.6172A>G (p.Asn2058Asp)	MAST4 (N1802D +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3293420	NM_001164664.2(MAST4):c.5564G>C (p.Ser1855Thr)	MAST4 (S1855T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293419	NM_001164664.2(MAST4):c.3149A>G (p.Asp1050Gly)	MAST4 (D1053G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293418	NM_001164664.2(MAST4):c.6176C>A (p.Ser2059Tyr)	MAST4 (S1870Y +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293417	NM_001164664.2(MAST4):c.6175T>A (p.Ser2059Thr)	MAST4 (S1798T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293416	NM_001164664.2(MAST4):c.4912C>T (p.Arg1638Trp)	MAST4 (R1449W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293415	NM_001164664.2(MAST4):c.5807A>G (p.Lys1936Arg)	MAST4 (K1680R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
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 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 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 3123881	NM_001164664.2(MAST4):c.7850G>A (p.Ser2617Asn)	MAST4 (S2349N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123880	NM_001164664.2(MAST4):c.7780C>T (p.Pro2594Ser)	MAST4 (P2388S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123879	NM_001164664.2(MAST4):c.7729A>G (p.Asn2577Asp)	MAST4 (N2371D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123878	NM_001164664.2(MAST4):c.7661C>T (p.Thr2554Ile)	MAST4 (T2348I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123877	NM_001164664.2(MAST4):c.7655C>T (p.Ser2552Leu)	MAST4 (S2291L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123876	NM_001164664.2(MAST4):c.7553G>A (p.Ser2518Asn)	MAST4 (S2257N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123875	NM_001164664.2(MAST4):c.7304A>G (p.Asn2435Ser)	MAST4 (N2241S +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123874	NM_001164664.2(MAST4):c.7199T>G (p.Leu2400Trp)	MAST4 (L2132W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123873	NM_001164664.2(MAST4):c.7123A>G (p.Thr2375Ala)	MAST4 (T2107A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123872	NM_001164664.2(MAST4):c.7112G>A (p.Gly2371Glu)	MAST4 (G2103E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123871	NM_001164664.2(MAST4):c.7096G>A (p.Asp2366Asn)	MAST4 (D2105N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123870	NM_001164664.2(MAST4):c.7073C>T (p.Pro2358Leu)	MAST4 (P2361L +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123869	NM_001164664.2(MAST4):c.6947C>A (p.Ala2316Glu)	MAST4 (A2060E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123868	NM_001164664.2(MAST4):c.6848A>G (p.Asp2283Gly)	MAST4 (D2022G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123867	NM_001164664.2(MAST4):c.6772A>G (p.Asn2258Asp)	MAST4 (N2064D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123866	NM_001164664.2(MAST4):c.6769C>A (p.Gln2257Lys)	MAST4 (Q2063K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123865	NM_001164664.2(MAST4):c.6734G>A (p.Ser2245Asn)	MAST4 (S2039N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123864	NM_001164664.2(MAST4):c.6526C>G (p.Pro2176Ala)	MAST4 (P1908A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123863	NM_001164664.2(MAST4):c.6304A>C (p.Ser2102Arg)	MAST4 (S1846R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123862	NM_001164664.2(MAST4):c.6298G>C (p.Glu2100Gln)	MAST4 (E1832Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123861	NM_001164664.2(MAST4):c.6248C>G (p.Pro2083Arg)	MAST4 (P1822R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123860	NM_001164664.2(MAST4):c.5960C>A (p.Ala1987Asp)	MAST4 (A1781D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123859	NM_001164664.2(MAST4):c.5864G>A (p.Cys1955Tyr)	MAST4 (C1699Y +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
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 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 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 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 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 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 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 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 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 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 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 3062340	NC_000005.10:g.(?_66758973)_(67006046_?)del	LOC126807413, LOC126807414 +6 more	Deletion	Epilepsy syndrome	GUncertain significance
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 2655503	NM_001164664.2(MAST4):c.7659G>C (p.Val2553=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655502	NM_001164664.2(MAST4):c.7419_7422del (p.Glu2474fs)	MAST4 (E2206fs +8 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2655501	NM_001164664.2(MAST4):c.7110A>G (p.Glu2370=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655500	NM_001164664.2(MAST4):c.6759C>T (p.Thr2253=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2655498	NM_001164664.2(MAST4):c.3519C>T (p.Ile1173=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655497	NM_001164664.2(MAST4):c.3036C>G (p.Ala1012=)	MAST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2610150	NM_001164664.2(MAST4):c.6597C>G (p.Asp2199Glu)	MAST4 (D1938E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607542	NM_001164664.2(MAST4):c.7226G>A (p.Gly2409Glu)	MAST4 (G2141E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604672	NM_001164664.2(MAST4):c.6386A>C (p.His2129Pro)	MAST4 (H2129P +8 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 2596409	NM_001164664.2(MAST4):c.6899A>G (p.Lys2300Arg)	MAST4 (K2032R +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 2548867	NM_001164664.2(MAST4):c.7423G>A (p.Ala2475Thr)	MAST4 (A2214T +8 more)	Single nucleotide variant (missense variant)	not specified	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 2541493	NM_001164664.2(MAST4):c.6576C>G (p.His2192Gln)	MAST4 (H2192Q +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 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 2521987	NM_001164664.2(MAST4):c.7469G>A (p.Gly2490Asp)	MAST4 (G2222D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516784	NM_001164664.2(MAST4):c.6632C>G (p.Ser2211Cys)	MAST4 (S2017C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515905	NM_001164664.2(MAST4):c.6842C>T (p.Pro2281Leu)	MAST4 (P2020L +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 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 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 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 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 2493657	NM_001164664.2(MAST4):c.6533A>G (p.Asp2178Gly)	MAST4 (D1972G +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 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 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 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 2484877	NM_001164664.2(MAST4):c.6917G>A (p.Arg2306Lys)	MAST4 (R2045K +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 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 2466802	NM_001164664.2(MAST4):c.5968G>T (p.Ala1990Ser)	MAST4 (A1784S +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

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