ClinVar for Gene (Select 114784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106268	NM_001379301.1(HMGB4):c.463G>A (p.Glu155Lys)	CSMD2, HMGB4 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106267	NM_001379301.1(HMGB4):c.428A>T (p.Glu143Val)	CSMD2, HMGB4 (E69V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106266	NM_001379301.1(HMGB4):c.347C>T (p.Pro116Leu)	CSMD2, HMGB4 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106265	NM_001379301.1(HMGB4):c.179A>G (p.Tyr60Cys)	CSMD2, HMGB4 (Y60C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3078209	NM_001281956.2(CSMD2):c.10333G>T (p.Val3445Phe)	CSMD2 (V3445F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078208	NM_001281956.2(CSMD2):c.10240G>T (p.Gly3414Trp)	CSMD2 (G3270W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078207	NM_001281956.2(CSMD2):c.9870G>C (p.Gln3290His)	CSMD2 (Q3290H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078206	NM_001281956.2(CSMD2):c.9710C>T (p.Ser3237Phe)	CSMD2 (S3237F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078205	NM_001281956.2(CSMD2):c.1046T>C (p.Ile349Thr)	CSMD2 (I349T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078203	NM_001281956.2(CSMD2):c.1010G>A (p.Arg337His)	CSMD2 (R297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078202	NM_001281956.2(CSMD2):c.9330T>A (p.Asn3110Lys)	CSMD2 (N2966K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078200	NM_001281956.2(CSMD2):c.986C>T (p.Thr329Ile)	CSMD2 (T329I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078199	NM_001281956.2(CSMD2):c.9011G>T (p.Ser3004Ile)	CSMD2 (S2860I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078198	NM_001281956.2(CSMD2):c.8938G>A (p.Gly2980Ser)	CSMD2 (G2980S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078197	NM_001281956.2(CSMD2):c.8846C>T (p.Thr2949Ile)	CSMD2 (T2805I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078196	NM_001281956.2(CSMD2):c.8023G>C (p.Gly2675Arg)	CSMD2 (G2675R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078195	NM_001281956.2(CSMD2):c.8000G>T (p.Arg2667Leu)	CSMD2 (R2667L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078194	NM_001281956.2(CSMD2):c.7738C>T (p.Arg2580Cys)	CSMD2 (R2582C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078193	NM_001281956.2(CSMD2):c.7721C>T (p.Thr2574Ile)	CSMD2 (T2576I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078192	NM_001281956.2(CSMD2):c.7667G>A (p.Ser2556Asn)	CSMD2 (S2556N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078191	NM_001281956.2(CSMD2):c.7481A>G (p.Asn2494Ser)	CSMD2 (N2496S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078190	NM_001281956.2(CSMD2):c.7415C>T (p.Pro2472Leu)	CSMD2 (P2474L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078189	NM_001281956.2(CSMD2):c.6941A>T (p.Asp2314Val)	CSMD2 (D2316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078188	NM_001281956.2(CSMD2):c.779C>T (p.Ser260Leu)	CSMD2 (S220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078187	NM_001281956.2(CSMD2):c.6389G>C (p.Gly2130Ala)	LOC126805691, CSMD2 (G2130A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078186	NM_001281956.2(CSMD2):c.6347A>G (p.Tyr2116Cys)	CSMD2, LOC126805691 (Y2118C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078183	NM_001281956.2(CSMD2):c.6344-435G>A	CSMD2, LOC126805691 (V2103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078182	NM_001281956.2(CSMD2):c.6344-463G>C	CSMD2, LOC126805691 (E2093D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078181	NM_001281956.2(CSMD2):c.6331C>G (p.Leu2111Val)	CSMD2 (L2111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078179	NM_001281956.2(CSMD2):c.6194G>A (p.Arg2065Gln)	CSMD2 (R2025Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078178	NM_001281956.2(CSMD2):c.6044T>C (p.Met2015Thr)	CSMD2 (M1975T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078177	NM_001281956.2(CSMD2):c.5987G>A (p.Arg1996Gln)	CSMD2 (R1956Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078176	NM_001281956.2(CSMD2):c.5884G>A (p.Gly1962Ser)	CSMD2 (G1962S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078175	NM_001281956.2(CSMD2):c.693C>A (p.Phe231Leu)	CSMD2 (F231L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078174	NM_001281956.2(CSMD2):c.5671G>A (p.Glu1891Lys)	CSMD2 (E1891K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078173	NM_001281956.2(CSMD2):c.5587G>A (p.Val1863Met)	CSMD2 (V1823M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078172	NM_001281956.2(CSMD2):c.5486C>A (p.Ala1829Glu)	CSMD2 (A1789E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078171	NM_001281956.2(CSMD2):c.5386A>G (p.Ile1796Val)	CSMD2 (I1756V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078170	NM_001281956.2(CSMD2):c.4433C>T (p.Pro1478Leu)	CSMD2 (P1478L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078169	NM_001281956.2(CSMD2):c.4405G>A (p.Glu1469Lys)	CSMD2 (E1429K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078167	NM_001281956.2(CSMD2):c.3781T>C (p.Tyr1261His)	CSMD2 (Y1221H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078166	NM_001281956.2(CSMD2):c.3643G>T (p.Val1215Leu)	CSMD2 (V1175L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078165	NM_001281956.2(CSMD2):c.2983G>A (p.Glu995Lys)	CSMD2 (E995K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078164	NM_001281956.2(CSMD2):c.2767T>G (p.Phe923Val)	CSMD2 (F923V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078163	NM_001281956.2(CSMD2):c.2696C>T (p.Thr899Ile)	CSMD2 (T859I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078162	NM_001281956.2(CSMD2):c.2590G>A (p.Gly864Arg)	CSMD2 (G864R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078161	NM_001281956.2(CSMD2):c.2578G>A (p.Gly860Arg)	CSMD2 (G820R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078160	NM_001281956.2(CSMD2):c.2184C>A (p.His728Gln)	CSMD2 (H728Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078159	NM_001281956.2(CSMD2):c.2113C>T (p.Arg705Cys)	CSMD2 (R665C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078158	NM_001281956.2(CSMD2):c.1992C>A (p.Asp664Glu)	CSMD2 (D624E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078157	NM_001281956.2(CSMD2):c.1738G>A (p.Gly580Ser)	CSMD2 (G540S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078156	NM_001281956.2(CSMD2):c.1675G>A (p.Gly559Ser)	CSMD2 (G519S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078154	NM_001281956.2(CSMD2):c.1547A>G (p.Tyr516Cys)	CSMD2 (Y476C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078153	NM_001281956.2(CSMD2):c.1331T>A (p.Met444Lys)	CSMD2 (M444K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078152	NM_001281956.2(CSMD2):c.10739G>C (p.Arg3580Thr)	CSMD2 (R3436T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681216	NM_001281956.2(CSMD2):c.4518G>A (p.Pro1506=)	CSMD2	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2681215	NM_001281956.2(CSMD2):c.6942C>A (p.Asp2314Glu)	CSMD2 (D2314E +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638639	NM_052896.5(CSMD2):c.45A>G (p.Gln15=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638638	NM_001281956.2(CSMD2):c.93C>G (p.Gly31=)	CSMD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638637	NM_001281956.2(CSMD2):c.774C>T (p.Phe258=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638636	NM_001281956.2(CSMD2):c.2412C>T (p.Leu804=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638635	NM_001281956.2(CSMD2):c.2502C>T (p.Phe834=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638634	NM_001281956.2(CSMD2):c.2778C>T (p.Gly926=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638633	NM_001281956.2(CSMD2):c.3450G>C (p.Leu1150=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638632	NM_001281956.2(CSMD2):c.3600C>T (p.Ser1200=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638631	NM_001281956.2(CSMD2):c.3786G>A (p.Lys1262=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638630	NM_001281956.2(CSMD2):c.4401G>A (p.Lys1467=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638629	NM_001281956.2(CSMD2):c.4518G>T (p.Pro1506=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638628	NM_001281956.2(CSMD2):c.5250C>T (p.Ser1750=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638627	NM_001281956.2(CSMD2):c.6543C>T (p.Gly2181=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638626	NM_001281956.2(CSMD2):c.6755G>A (p.Arg2252Gln)	CSMD2 (R2252Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638625	NM_001281956.2(CSMD2):c.9375C>T (p.Gly3125=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638624	NM_001281956.2(CSMD2):c.10023G>A (p.Thr3341=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638623	NM_001281956.2(CSMD2):c.10178G>A (p.Arg3393Gln)	CSMD2 (R3249Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615180	NM_001281956.2(CSMD2):c.3848G>A (p.Ser1283Asn)	CSMD2 (S1243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613150	NM_001281956.2(CSMD2):c.5336C>T (p.Pro1779Leu)	CSMD2 (P1779L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610190	NM_001281956.2(CSMD2):c.1823C>G (p.Ser608Trp)	CSMD2 (S608W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609590	NM_001281956.2(CSMD2):c.3110G>A (p.Arg1037Gln)	CSMD2 (R997Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609153	NM_001281956.2(CSMD2):c.5768A>T (p.Tyr1923Phe)	CSMD2 (Y1923F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608772	NM_001281956.2(CSMD2):c.10574G>A (p.Gly3525Glu)	CSMD2 (G3381E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607755	NM_001281956.2(CSMD2):c.10300C>A (p.Gln3434Lys)	CSMD2 (Q3290K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602384	NM_001281956.2(CSMD2):c.5828C>T (p.Thr1943Met)	CSMD2 (T1903M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600301	NM_001281956.2(CSMD2):c.7933G>A (p.Gly2645Arg)	CSMD2 (G2647R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597608	NM_001281956.2(CSMD2):c.1012G>A (p.Gly338Arg)	CSMD2 (G298R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596791	NM_001281956.2(CSMD2):c.2581G>T (p.Val861Phe)	CSMD2 (V861F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595223	NM_001281956.2(CSMD2):c.9502G>T (p.Val3168Leu)	CSMD2 (V3024L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591694	NM_001281956.2(CSMD2):c.6830G>T (p.Gly2277Val)	CSMD2 (G2277V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590898	NM_001281956.2(CSMD2):c.9643G>A (p.Gly3215Arg)	CSMD2 (G3071R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590644	NM_001379301.1(HMGB4):c.530G>C (p.Arg177Pro)	CSMD2, HMGB4 (R103P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588332	NM_001281956.2(CSMD2):c.10819G>A (p.Asp3607Asn)	CSMD2 (D3607N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579708	NM_001281956.2(CSMD2):c.5984G>A (p.Arg1995Gln)	CSMD2 (R1955Q +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2570538	NM_001281956.2(CSMD2):c.5957A>T (p.His1986Leu)	CSMD2 (H1986L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569899	NM_001281956.2(CSMD2):c.292G>A (p.Ala98Thr)	CSMD2 (A58T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569010	NM_001281956.2(CSMD2):c.604C>T (p.Arg202Cys)	CSMD2 (R162C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558743	NM_001281956.2(CSMD2):c.6052G>A (p.Val2018Met)	CSMD2 (V2018M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553503	NM_001281956.2(CSMD2):c.8836G>A (p.Gly2946Ser)	CSMD2 (G2802S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547924	NM_001281956.2(CSMD2):c.7720A>G (p.Thr2574Ala)	CSMD2 (T2574A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546414	NM_001281956.2(CSMD2):c.7054C>T (p.His2352Tyr)	CSMD2 (H2354Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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